High-protein Therapy Research Articles

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disease with variable hepatic, muscular, neurologic, dermatologic, and cardiac involvement. There is a paucity of literature and clinical and dietary management in GSD IV, and liver transplantation (LT) is described to correct the primary hepatic enzyme defect. Objectives: We herein describe five cases of patients with GSD IV with different ages of onset and outcomes as well as a novel GBE1 variant. Methods: This is a descriptive case series of patients receiving care for GSD IV at Reference Centers for Rare Diseases in Brazil and in the United States of America. Patients were selected based on confirmatory GBE1 genotypes performed after strong clinical suspicion. Results: Pt #1 is a Latin male with the chief complaints of hepatosplenomegaly, failure to thrive, and elevated liver enzymes starting at the age of 5 months. Before LT at the age of two, empirical treatment with corn starch (CS) and high protein therapy was performed with subjective improvement in his overall disposition and liver size. Pt #2 is a 30-month-old Afro-American descent patient with the chief complaints of failure to gain adequate weight, hypotonia, and hepatosplenomegaly at the age of 15 months. Treatment with CS was initiated without overall improvement of the symptoms. Pt #3.1 is a female Latin patient, sister to pt #3.2, with onset of symptoms at the age of 3 months with bloody diarrhea, abdominal distention, and splenomegaly. There was no attempt of treatment with CS. Pt #4 is an 8-year-old male patient of European descent who had his initial evaluation at 12 months, which was remarkable for hepatosplenomegaly, elevated ALT and AST levels, and a moderate dilatation of the left ventricle with normal systolic function that improved after LT. Pt #1, #3.2 and #4 presented with high levels of chitotriosidase. Pt #2 was found to have the novel variant c.826G > C p.(Ala276Pro). Conclusions: GSD IV is a rare disease with different ages of presentation and different cardiac phenotypes, which is associated with high levels of chitotriosidase. Attempts of dietary intervention with CS did not show a clear improvement in our case series.

Serum ionogram in third degree malnutrition. I. Oedematous malnutrition.

1. Serum electrolyte estimations were performed in twenty-two severely malnourished, oedematous children belonging to the two clinical entities, nutritional oedema and kwashiorkor. 2. Similar investigations were carried out in twenty normal healthy children in order to standardise the technical procedures. 3. Majority of the cases revealed low normal to normal values of sodium and chloride (63 and 72 per cent respectively), normal to high normal values of alkali reserve) fifty per cent (and hypokalaemia) sixty-three per cent). 4. Serum ionogram was repeated in eleven children at the end of an average period of three weeks during which the subjects were placed on routine dietetic and high protein therapy. These ionograms showed a distinct tendency towards reversion to normal. 5. The significance of these observations is discussed.

Studies in water metabolism in clinical and experimental malnutrition

1. (1) Children with kwashiorkor were found to have an impaired renal response to water and an increased virtual deuterium space. Following high protein therapy, an increased renal response to water occurred in all but one patient, and the virtual deuterium space decreased in every case. 2. (2) Adult male rats kept on a diet of cassava for 15 weeks, lost weight, had an impaired renal response to water and an increased virtual deuterium space.