Serum Lactic Acid Levels Research Articles

Retinal changes in glycogen storage disease type I.

GLYCOGEN storage disease (GSD), Type 1 or Von Gierke's disease is a hereditary disease associated with very low to absent activity of the enzyme glucose-6-phosphatase in the liver, kidney, and small intestine, 1 and the accumulation of glycogen in these tissues. Clinically, the disease is characterized by short stature, massive hepatomegaly, hypoglycemia, lactic acidosis, and hyperlipidemia. This report presents retinal changes not previously described in patients with GSD, Type 1. Materials Five patients (case 1, 20-year-old man; case 2, 17-year-old girl; case 3, 14-year-old girl; case 4, 13-year-old boy; and case 5, 12-year-old boy) with clinical findings of GSD, Type 1 who met the following biochemical criteria were studied: no increase in the blood glucose concentration in response to glucagon (0.1 cc/kg) or galactose (1.75 mg/kg); elevated serum lactic acid levels and/or absence of liver glucose-6-phosphatase. Case 1 and case 3 are siblings. Results Ophthalmoscopic examination of cases 2, 3,

Effects of posture and exertion on levels of serum cholesterol and lactic acid

In male prisoners, 18 to 48 years old, the effects of posture were studied on the levels of serum cholesterol and serum lactic acid. The effect of posture is limited to the nonfilterable elements of the blood, such as the proteins, and therewith also to all protein-bound serum compounds. As for these compounds, higher levels are found when measurements are made with the subject standing than when he is seated, and again the values are higher in the sitting than in the recumbent position. The increase in the values when posture was changed from recumbent to standing was 8 per cent. Exertion and meals affect the cholesterol levels less than does a change in posture. The lactic acid level is not dependent on posture but rises with slight exertion.

Glycogenic myopathy: A case of skeletal muscle-glycogenosis in twins

With two adult male twins aged 29, severe muscle fatigue was noted after every effort of a rhythmical nature, which in the last 2 years had worsened and then continued unchanged. Both men are well-developed and muscular, and without either atrophy or hypertrophy. They never passed brownish or dark urine. Muscular fatigue was checked by various exercises, while in connection with ischaemic exercises exhaustion ensued much sooner than in the absence of ischaemia and with healthy controls. Neurological investigation did not reveal any abnormality in our patients. Thorough laboratory, biochemical, and biopsy investigations yielded the folllowing findings in the case of one twin (Peter E.): 1. (1) Quiescent values of serum-pyruvic acid were found to be raised; at the end of the ischaemia effort experiment the serum pyruvic acid content rose to less than twice the initial value. 2. (2) With serum lactic acid, the quiescent value was at the normal upper limit; by the end of the ischaemic effort experiment, only a slight rise was noticeable. The relatively slight increase of serum pyruvic acid and serum lactic acid levels at the end of the ischaemic effort test indicated that anaerobic breakdown of muscles glycogen was partially inhibited. Biopsy was performed on bilateral samples from the quadriceps femoris muscle. Staining with haematoxylin-eosin and the Van Gieson and Mallory methods, revealed the presence of a strikingly large number of vacuoles filled, not with neutral fats or lipid substances, but with glycogen, acid mucopolysaccharides, perhaps mixed with other substances. The amount of muscle-glycogen was found histochemically to be increased, while muscle-phosphorylase activity remained approximately normal on the histochemical slides. With one twin (Peter E.) erythrocyte glycogen concentration was normal; with the other it was slightly increased. In the case of both patients, the glycogen isolated from the red blood cells was of pathological structure. Judged by the above histological and histochemical evidence, our case stands nearest to case No. 2 of Thomson et al. [ J. Neurol. Neurosurg. Psychiat. (1963) 26: 20]. With reference to the clinical findings, effort tests and ischaemic exercises, to serological, biopsy-histological and -histochemical findings, our case can be probably placed within the “type-5” group of the glycogenosis table of Stetten and Stetten [ Physiol. Rev. (1960) 40: 505] and Thomson et al., where no enzyme deficiency has been found to occur, but where numerous partial enzyme deficiencies may be deemed responsible. However, since glycogen structure has proved to be pathological in our cases, they may constitute a new, so far unknown subgroup of “type 5”. This is the first occasion in the literature, where glycogen myopathy has been observed in twins.

A metabolic myopathy due to absence of muscle phosphorylase

Detailed functional and metabolic studies have been conducted in a nineteen year old boy who had a lifelong history of progressive weakness upon usage of exercised muscles and severe cramps if exertion was intense or prolonged. There was no muscular wasting, and strength during initial exercise was normal. The family history was non-contributory. Basal serum lactic and pyruvic acid levels were normal. However, there was no rise following treadmill exercise, in contrast to a transitory but significant rise in controls. Ischemic exercise of the forearm muscles was poorly maintained, and no elevation of lactic or pyruvic acid was noted in the venous return from the arm in contrast to a fourfold increase in control subjects. In the basal state, treadmill exercise at 4 miles per hour (10 degree incline) was limited to about four minutes. Improvement in treadmill exercise tolerance was marked following continuous intravenous infusion of glucose, fructose or lactate but there was no effect from galactose or glycerol. Epinephrine infusion produced a normal hyperglycemic response. Biochemical and histochemical analyses of thigh muscle revealed a fourfold increase in stored glycogen in the muscle and no reliably detectable phosphorylase. Glycolysis in a tissue homogenate, as indicated by lactate production, was markedly reduced. It was raised to near normal intensity by the addition of glucose-1-phosphate or glucose-6-phosphate. The uridine diphosphate glucose pathway for glycogen synthesis was found to be intact. This disorder, originally described by McArdle in 1951, is very rare. The deficiency in phosphorylase appears to be confined solely to the skeletal musculature. Because of the increase in stored muscle glycogen the disorder may be classified as another form of glycogen storage disease.