Galactose Intolerance Research Articles

Study on a galactose decomposition strain of Lactiplantibacillus plantarum MWLp-4 from human milk: Safety evaluating and key genes analysis of potential probiotic function

Galactose intolerance, associated with bloating and abdominal pain, is similar to lactose intolerance. Congenital galactose malabsorption in a child can lead to severe diarrhea. To avoid the consequences of galactose malabsorption, we obtained a galactose decomposition strain of Lactiplantibacillus plantarum MWLp-4 from human milk. Importantly, this strain had almost overlapping dynamics of galactose and lactose utilization, showing a great galactose catabolic ability. In this paper, we studied safety evaluation including hemolysis test, drug sensitivity test, and determination of amine in vitro of L. plantarum MWLp-4. In addition, we evaluated the probiotic function such as antimicrobial properties, adhesion, acid resistance, and bile salt resistance, etc. Meanwhile, we have analyzed the key genes on function and safety. As a conclusion, this strain possess great safety and probiotic function. The genes related to galactose metabolism, bacteriocin synthesis, surface protein synthesis, bile salt hydrolysis and stress response are found in L. plantarum MWLp-4. Analysis of the consistency of the phenotype with its genotype via whole genome sequencing showed that the phenotype of its physiological function is due to the large number of related genes existing in it. Therefore, this study would provide potential degrading galactose probiotics for producing special functional food.

A randomised placebo-controlled trial of the effectiveness of early metformin in addition to usual care in the reduction of gestational diabetes mellitus effects (EMERGE): study protocol

BackgroundPregnancies affected by gestational diabetes mellitus (GDM) are associated with an increased risk of adverse maternal and foetal outcomes. Current treatments for GDM involve initial medical nutritional therapy (MNT) and exercise and pharmacotherapy in those with persistent hyperglycaemia. Insulin is considered first-line pharmacotherapy but is associated with hypoglycaemia, excessive gestational weight gain (GWG) and an increased caesarean delivery rate. Metformin is safe in selected groups of women with GDM but is not first-line therapy in many guidelines due to a lack of long-term data on efficacy. The EMERGE trial will evaluate the effectiveness of early initiation of metformin in GDM.MethodsEMERGE is a phase III, superiority, parallel, 1:1 randomised, double-blind, placebo-controlled trial comparing the effectiveness of metformin versus placebo initiated by 28 weeks (+6 days) plus usual care.Women aged 18–50 years will be recruited. Women with established diabetes, multiple pregnancies, known major congenital malformation or small for gestational age (<10th centile), intolerance or contraindication to the use of metformin, shock or sepsis, current gestational hypertension or pre-eclampsia, significant gastrointestinal problems, congestive heart failure, severe mental illness or galactose intolerance are excluded.InterventionImmediate introduction of metformin or placebo in addition to MNT and usual care. Metformin is initiated at 500mg/day and titrated to a maximum dose of 2500mg over 10 days. Women are followed up at 4 and 12 weeks post-partum to assess maternal and neonatal outcomes.The composite primary outcome measure is initiation of insulin or fasting blood glucose ≥ 5.1 mmol/L at gestational weeks 32 or 38. The secondary outcomes are the time to insulin initiation and insulin dose required; maternal morbidity at delivery; mode and time of delivery; postpartum glucose status; insulin resistance; postpartum body mass index (BMI); gestational weight gain; infant birth weight; neonatal height and head circumference at delivery; neonatal morbidities (neonatal care unit admission, respiratory distress, jaundice, congenital anomalies, Apgar score); neonatal hypoglycaemia; cost-effectiveness; treatment acceptability and quality of life determined by the EQ5D-5L scale.DiscussionThe EMERGE trial will determine the effectiveness and safety of early and routine use of metformin in GDM.Trial registrationEudraCT Number 2016-001644-19l; NCT NCT02980276. Registered on 6 June 2017.

Probiotics dairy drink for patients with Galactosemia

Objective: The objective of this study was to develop probiotic dairy products with lactose free and low-galactose contents were produced for patients with galactosemia from four different raw materials including conventional cow’s milk, lactose free cow’s milk and mixtures containing lactose free cow’s milk and three different lactose and galactose free infant formulas. Material and Methods: Probiotic fermented dairy drinks, specifically acidophilus milk and kefir, with lactose free and low galactose content for patients with galactose intolerance were produced by using a 1:1 mixture of lactose free milk and two different types of infant formula, fortified with strawberry flavor. Storage period was set for 30 days. Said types of products were also produced with lactose free milk and conventional milk as raw material in order to use as control groups. With priority, lactose and galactose contents, and some other chemical, physical, microbiological and sensory properties were examined. Results: Chemical, physical, microbiological and sensory properties of these products were found to match the common quality characteristics of a commercial fermented dairy product. Also, such properties of fermented dairy drinks produced from lactose free milk have the same quality characteristics of a fermented dairy product. Conclusion: The galactose contents of fermented dairy beverages produced from lactose free raw materials were reduced to a level suitable for the diets of galactosemic patients.

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified in SLC2A2 gene of FBS cases. Approximately 144 FBS cases with 70 different SLC2A2 gene variants have been reported so far. SLC2A2 encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells, enterocytes, pancreatic β-cells, hepatocytes and discrete regions of the brain. Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia (fasting hypoglycemia, postprandial hyperglycemia, glucose intolerance, and rarely diabetes mellitus), hepatomegaly, galactose intolerance, rickets, and poor growth. The molecular mechanisms of dysglycaemia in FBS are still not clearly understood. In this review, we discuss the physiological roles of GLUT2 and the pathophysiology of mutants, highlight all of the previously reported SLC2A2 mutations associated with dysglycaemia, and review the potential molecular mechanisms leading to dysglycaemia and diabetes mellitus in FBS patients.

Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.

Classic Galactosaemia is a genetic disorder, characterised by galactose intolerance in newborns. It occurs due to recessive mutations in the galactose-1-phosphate uridylyltransferase (GALT) gene. One of the main alterations caused by GALT deficiency is the accumulation of galactose 1-phosphate (Gal-1P) in cells. Studies have suggested that Gal-1P exerts cellular toxicity, possibly by inhibiting cellular metabolism. However, the exact significance of Gal-1P in disease pathogenesis remains unclear. In this study, we tested the hypothesis that Gal-1P inhibits cellular glucose utilisation by competing with substrates in the glycolytic pathway. We also investigated the metabolism of both galactose and glucose in GALT-expressing HEK293T and 143B cells to identify critical reactions steps contributing to the metabolic toxicity of galactose. Notably, we found that galactose-treated HEK293T and 143B cells, which express endogenous GALT, accumulate markedly high intracellular Gal-1P concentrations. Despite very high intracellular Gal-1P concentrations, no inhibition of cellular glucose uptake and no significant changes in the intracellular concentrations of glycolytic metabolites were observed. This indicates that Gal-1P does not exert an inhibitory effect on glycolysis in cells and rules out one potential hypothesis for cellular Gal-1P toxicity. We also investigated the mechanism responsible for the observed Gal-1P accumulation. Our results suggest that Gal-1P accumulation is a result of both low GALT activity and the absence of product inhibition by Gal-1P on galactokinase (GALK1), the enzyme responsible for phosphorylating galactose to Gal-1P. These findings provide a better understanding of the disease mechanisms underlying Classic Galactoaemia.

Digestive side-effects with teriflunomide: Thoughts on lactose

IntroductionTeriflunomide, a novel, orally bioavailable, active metabolite of leflunomide, has anti-inflammatory activity. It is prescribed as a first-line treatment for relapsing–remitting multiple sclerosis (RRMS) at a dose of one 14mg tablet per day. Common adverse reactions observed in placebo-controlled trials with a frequency≥10% and a rate twofold or more than reported with placebo, include digestive disorders. As teriflunomide tablets also contain lactose, the official recommendations are clear about not prescribing this drug to patients with known lactose intolerance and those with rare hereditary problems due to galactose intolerance. MethodsOur study systematically collected, from our MS clinical practice, all adverse events presenting in the first 100 patients treated with teriflunomide. All of these patients were systematically asked if they were known to have lactose intolerance. ResultsNone of these 100 patients declared having known, documented lactose intolerance. Yet, after starting teriflunomide, 14 reported mild-to-moderate diarrhea, which resolved within a month, but four of these patients continued to have daily diarrhea (grade 2 WHO classification), prompting us to perform a lactose breath test (LBT) for malabsorption. All four tested positive and were therefore diagnosed with lactose intolerance. Digestive symptoms were resolved with probiotics, and teriflunomide was maintained in three cases; the fourth patient decided, despite the adverse event being resolved, to stop taking teriflunomide. ConclusionIn cases of prolonged digestive side-effects after the introduction of teriflunomide, a lactose-malabsorption breath test should be proposed to confirm the culpability or not of an enzymatic defect in the occurrence of adverse events.

The clinical spectrum of chronic diarrhoea in children in a tertiary care hospital in Bangalore, India

Background: In the developing world, chronic diarrhea is typically associated with serial enteric infections and malnutrition. There are many causes for chronic diarrhea and with better facilities these are being increasingly diagnosed in India. To study the clinical spectrum of chronic diarrhoea in children. in a tertiary care hospital in BangaloreMethods: This was a prospective observational study conducted at the Dept of Pediatrics, Dr.B.R.Ambedkar Medical College , Bangalore from April 2015 to April 2017. All the patients who presented with symptoms suggestive of chronic diarrhoea were enrolled for the study. 50 children fulfilling inclusion criteria were selected for the study.Results: Of 50 cases, 31(62%) showed cow milk protein intolerance (CMPI), 6 (12%) celiac disease, 5(10%) post infectious, 2(4%) glucose galactose intolerance, 1(2%) non-specific, 1(2%) cystic fibrosis, 1(2%) IBD, TB 1(2%) and 2(4%) lympangiectesia. In children below 2 years, cow milk protein intolerance was the most common cause of diarrhea whereas post infectious was the most common cause in 2-6 years age group and celiac disease in above 6 years of age group.Conclusions: Cow milk protein intolerance is the most common etiological factor. The incidence of celiac disease was the second most common cause after CMPI in the present study. The incidence of CMPI as a cause of chronic diarrhoea reduces as the age increases as seen in present study. The high incidence of celiac diseases may be due to referral to our institution by various peripheral hospitals when they could not diagnose after routine investigations.

Yoghurt drink for lactose and galactose intolerant patients.

In this study, yoghurt drink with lactose free and low galactose content for patients with galactose intolerance were produced using a 1:1 mixture of lactose free milk and two different types of infant formula, fortified with strawberry flavor. The results indicated that galactose content of yoghurt drinks produced from lactose free raw materials were declined to a level that is suitable for the diets of patients with galactosemia. Chemical, microbiological and sensory properties of these products were found to match the common quality characteristics of a commercial fermented dairy product. Also, the properties of fermented dairy drinks produced from lactose free milk have the similar quality characteristics of a fermented dairy product.

Development of a new bioaffinity stationary phase for lactose removal using a lactose-binding lectin immobilized onto polyaniline

Abstract The global prevalence of individuals with lactose intolerance and galactosemia has created a new market for commercially available lactose-free food products. In this scenario, the use of systems containing lactose-binding molecules for lactose removal is quite promising. In this work, a new lectin from Brosimum gaudichaudii was purified, characterized and immobilized onto polyaniline aiming to develop a new system for lactose removal through bioaffinity chromatography. The lectin from Brosimum gaudichaudii (brosimin) was purified through sequential size exclusion chromatography, reaching a protein purification of 34-fold. Brosimin was characterized as a lactose-binding ion-independent lectin, with two subunits of 25 kDa and 31 kDa. The best support for brosimin immobilization was found as glutaraldehyde modified polyaniline, reaching 47% of lactose removal from skim bovine milk. Furthermore, considering the upscale process, the use of sequential reactors containing PANIG-brosimin could provide high levels of lactose removal, reaching a product with the requirements to be used by individuals with lactose and/or galactose intolerance.

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

BackgroundClassical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect.MethodsThis study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactosemia and one with type 2 Galactosemia in Brazil. Some individuals were diagnosed through expanded newborn screening test, which is not available routinely to all newborns.ResultsThe main classical Galactosemia mutations reported to date were identified in this study, as well as the Duarte variant and seven novel mutations - c.2 T > C (p.M1T), c.97C > A (p.R33S), c.217C > T (p.P73S), c.328 + 1G > A (IVS3 + 1G > A), c.377 + 4A > C (IVS4 + 4A > C), c.287_289delACA (p.N97del) and c.506A > C (p.Q169P). This was expected, given the high miscegenation of the Brazilian population.ConclusionsThis study expands the mutation spectrum in GALT gene and reinforces the importance of early diagnosis and introduction of dietary treatment, what is possible with the introduction of Galactosemia in neonatal screening programs.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0300-8) contains supplementary material, which is available to authorized users.

A new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri

. 2012). The disease was firstdescribed by G. Fanconi and Horst Bickel (Fanconi andBickel 1949). The affected child typically presents in the1st year of life with failure to thrive, rickets, a protuberantabdomen due to hepatomegaly secondary to glucose accumu-lation and nephromegaly, glucose and galactose intolerance,fasting hypoglycemia, and characteristic tubular nephropathy(Yoo

Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi–Bickel syndrome: revisited gene atlas for renumbering

Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive. Among 17 unrelated Egyptian families with heritable renal tubular acidosis, three families clinically suspected as FBS were enrolled for this study after providing written informed consent. The three families had positive consanguinity and index cases with characteristic clinical features of FBS (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy). Laboratory work-up included urinalysis, renal and liver function tests, fasting and postprandial blood sugar, serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile and arterial blood gas analysis. Imaging studies included bone survey and abdominal ultrasound. Liver biopsy was performed to confirm pathological diagnosis of the liver enlargement. Molecular analysis was performed for all family members-polymerase chain reaction followed by direct sequencing of the coding segments as well as the flanking introns. Three different mutations were detected, one specific for each family, including two new mutations. In the first family, exon 3, two bases (GA) were deleted (c.253_254delGA causing a frameshift mutation (p. Glu85fs); the patient presented with early symptoms but unfortunately died despite adequate treatment. In the second family, a mutation was found in exon 6, in the splicing acceptor site with intron 5 (c.776-1G>C or IVS5-1G>A). The third family showed a missense mutation C-to-T substitution at c.1250 (c.1250C>T) causing change of codon 417 (CCG) for proline to CTG for leucine (p. P417L); this is a well-known mutation in the Arab population previously localized in exon 9; however, it is currently renumbered to exon 10. Neither the new mutations nor the reported one were particularly more frequent; however, the third mutation (c.1250C>T) needs more attention in survey studies especially if performed in Arab patients as it has been renumbered because of the 'change' of gene structure since the initial reports.

Fanconi- Bickel Syndrome: Mutation in An Indian Patient

Fanconi -Bickel Syndrome (FBS) is described as an autosomal recessive Glycogen Storage Disorder type XI. The underlying enzyme defect is unknown. The gene GLUT2 maps to 3q26.1-q26.3; encodes a facultative glucose transporter gene. A 6-y-old girl presented with the characteristic facial gestalt, glucose and galactose intolerance, proximal renal tubular dysfunction, hepatomegaly, and altered liver function. To confirm the diagnosis, mutation analysis was performed. Patient showed homozygous mutation in exon 9 of GLUT2 gene 1093 C>T, the mutation causing transition from arginine to stop codon at position 365 and causing premature termination of protein. The mutation was found to be causative as previously described. To the best of authors' knowledge this is first Indian patient ever reported with a mutation. Genetic testing can be employed as a method of confirming diagnosis, especially where definitive mutation can be useful for prenatal diagnosis and prognostication.

Development of Therapeutic kefir-like products with low galactose content for patients with galactose intolerance

Galactosaemia is a rare, life-threatening inborn error. It is treated by life-long galactose restriction. People with galactose intolerance cannot consume milk and milk products. The aim of this work was to produce fermented milk products with low galactose content. Lactose hydrolysed milk and two types of mixture of lactose hydrolysed milk supplemented with galactose free nutriments (Pregomin and Nutrilon) were fermented in a 2:1 ratio. For fermentation traditional kefir culture (Lactococcus lactis sp. lactis + Lactococcus lactis sp. cremoris + Lactobacillus casei + Lactobacillus kefir + Candida kefir) was used. Number of viable cells, pH and galactose level were measured. Data were evaluated by one-way analysis of variance and t-test. Level of galactose reduction was measured by UV spectrometry for the determination of lactose and D-galactose in foodstuffs (Boehringer Mannheim enzyme test). Galactose content was below 200 mg/100 cm3 in the mixtures of lactose hydrolysed milk and galactose free nutriment...

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected. Thus, our results confirm that mutations of SLC2A2 are the basic defect in patients with FBS. Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations. No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected.

Conditioned Flavor Avoidance, Preference, and Indifference Produced by Intragastric Infusions of Galactose, Glucose, and Fructose in Rats

SCLAFANI A., L. J. FANIZZA AND A. V. AZZARA. Conditioned flavor avoidance, preference, and indifference produced by intragastric infusion of galactose, glucose, and fructose in rats. PHYSIOL BEHAV 67(2) 227–234, 1999.—The postingestive reinforcing and satiating effects of intragastric (i.g.) infusions of 16% galactose, glucose, and fructose were compared in adult female rats. In Experiment 1, food-restricted rats were trained to drink (30 min/day) flavored solutions (the CS+Gal and CS+Glu) paired with intragastric (i.g.) infusions of galactose and glucose; other flavors (the CS−) were paired with IG water infusions. In subsequent choice tests, the rats strongly preferred (91%) the CS+Glu to the CS−, but avoided the CS+Gal (21%) in favor of the CS−. In Experiment 2, the rats were trained with a CS+Fru paired with i.g. fructose infusions and a CS− paired with i.g. water. In the choice test they consumed similar amounts of CS+Fru and CS− (CS+Fru preference = 51%). In other choice tests they preferred the CS+Glu (>80%) to CS+Fru and CS+Gal, and the CS+Fru (81%) to CS+Gal. Satiation tests were performed in Experiment 3 by adapting the rats to drink a 3% sugar + 0.2% saccharin solution paired with i.g. water infusions (30 min/day). On different test days 16% sugar instead of water was infused. IG galactose, glucose, and fructose produced comparable reductions in sugar+saccharin intake in the first test session. These findings demonstrate that, while the three sugars had similar satiating effects, they differed substantially in their postingestive flavor conditioning effects. The glucose and fructose results confirm prior data indicating that only glucose generates potent postingestive reinforcing stimuli. The galactose-induced flavor avoidance indicates that this sugar has a negative postingestive consequence. This may be due to the slow and incomplete hepatic metabolism of this sugar in adult rats. Conceivably, galactose intolerance may contribute to the lactose avoidance in adult animals.

Natural history of soy allergy and/or intolerance in children, and clinical use of soy-protein formulas.

Atopic diseases of infants and children are common, debilitating, chronic and sometimes even life-threatening. Several well-conducted studies in high risk babies have demonstrated a significant reduction in the prevalence and severity of atopic diseases with dietary and environmental manipulations. The currently available cow's milk (CM) substitutes for infants are soy protein (SP) formulas (SPFs), hydrolyzed formulas (HF), and home-made meat-based formulas. Soybeans have been cultivated in Eastern countries for many centuries and were first used to feed US babies with CM allergy (CMA) in 1929. Since then, SPFs containing purified SP, a mixture of vegetable oils, and purified carbohydrate have been developed. From a nutritional point of view, SPFs are adequate, support normal growth, protein status, bone mineralization, are well accepted, and economical. SPFs are used for different conditions including CMA, lactose and galactose intolerance and in the management of severe gastroenteritis, and some studies show that feeding SPFs for the first six months of life significantly reduces the prevalence of atopic diseases in high risk babies. Although gastrointestinal symptoms and atopic dermatitis (AD) may occur in some SPF-fed children, anaphylaxis following the ingestion of soybean is extremely rare in children. However, in the past few years the antigenicity/allergenicity of SPFs has been over-emphasized in the medical literature. In this paper on the natural history of soy antigenicity/allergenicity we discuss all the pros and cons of SPFs, their composition and nutritional value, the basic immune definitions, chemistry and characterization of SPs. We then discuss the antigenicity and allergenicity of SPFs in animals, recent data on the use of SPFs and the incidence of soy allergy in children, clinical reactions to SPFs, and the clinical relevance of skin testing and IgE antibodies to soy, challenge test procedure, clinical indication of SPFs, and their relevance in the prevention of atopy. We have meta-analyzed 17 different studies and conclude that history-based SPF allergy incidence totals 27%, in skin prick tests (SPT) RAST-oral food challenge (OFC)/double-blind food challenge (DBFC)-based epidemiological studies attains 3%, and in challenge test studies 4%. We suggest that double-blind placebo-controlled food challenge (DBPCFC) studies in larger cohorts of babies may establish a more reliable prevalence of SPF allergy in different disorders associated with CMA.

Allergenicity and nutritional adequacy of soy protein formulas

Soy protein formulas are used for different conditions, including cow milk protein allergy, lactose and galactose intolerance, and severe gastroenteritis. Feeding soy protein formulas to normal term infants is associated with normal growth, normal protein nutritional status, and normal bone mineralization. Recent studies of infants fed soy protein formulas exclusively during the first months of life revealed no immunologic abnormality; however, the use of such formulas for management of cow milk protein allergy and for prevention of atopy is controversial. Although in the past decade many studies have stressed soy allergenicity, soy allergenicity has been confirmed by the challenge test in only a few studies. In this article we review the studies dealing with the allergenicity of soy protein formulas. We also present our own data on their use in the prevention and management of cow milk protein allergy.

A study of galactose intolerance in human and rat liver in vivo by 31P magnetic resonance spectroscopy.

An oral load of 20 mg/kg galactose produces significant changes in the 31P magnetic resonance spectrum of the liver of a galactosemic patient. The peak at 5.2 ppm (which includes inorganic phosphate and galactose-1-phosphate) increased on two occasions to about twice its original size 60 min after galactose administration. An oral load of 10 mg/kg galactose given to a second patient produced no discernible changes at 30 min. We have also used an animal model of galactose intolerance, in which galactose metabolism in rats was blocked by the acute administration of ethanol. Studies in vivo and in vitro showed that the increase in the peak at 5.2 ppm was largely due to galactose-1-phosphate. We have shown in this preliminary study that small amounts of galactose can produce significant elevation of hepatic galactose-1-phosphate, which can be detected by 31P magnetic resonance spectroscopy.

Galactose Intolerance and the Risk of Cataract.

Cataracts may arise in association with various major and minor disorders restricting galactose metabolism, and the risk is broadly associated with the degree of galactose intolerance. A family is described in which a girl presented at the age of 7 3/4 years with cataracts, galactosuria, and partial deficiencies of the enzymes galactokinase and galactose-1-phosphate uridyl transferase. Galactose intolerance as determined by an oral test was impaired and fluctuated with variation in activity of the above galactose enzymes. Minor defects were also present in the parents and a maternal half-brother. The child has a compound disorder of galactose metabolism differing from those previously described. Assessment of galactose tolerance may be useful in the investigation of families with an incidence of cataract.