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Y I Ro

Publications and source records attributed to Y I Ro.

4 recordsLinked to original sources

Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency.

In vivo phosphorus magnetic resonance spectroscopy was used to evaluate the changes in muscle bioenergetics in a patient with a partial glycolytic block. Phosphoglycerate mutase-deficient muscle showed the following evidence: Abnormal accumulation of sugar phosphates does occur, even when 6% enzyme activity is present. The elimination of sugar phosphates was faster than in complete glycolytic blocks. Mild intracellular acidosis occurred during ischemic exercise. The energy state was slightly low at rest but not during exercise. Postexercise recovery was mildly slowed. These findings suggest that phosphorus magnetic resonance spectroscopy can detect partial defects, as well as full glycolytic blocks, in muscle metabolism.

Adenosine Triphosphate↗

Multiple sclerosis and hypertrophic demyelinating peripheral neuropathy.

A combination of multiple sclerosis (MS) and hypertrophic demyelinating neuropathy has been reported in a few autopsy studies. We are reporting a unique case of such a combination, which was proved by the sural nerve biopsy. A patient with classical MS on history and findings had areflexia and sensory abnormalities in stocking distribution. The nerve conduction study showed marked abnormalities indicative of demyelinating neuropathy, and sural nerve biopsy was typical of hypertrophic demyelinating neuropathy.

Adult↗

Muscle phosphoglycerate mutase (PGAM) deficiency: a second case.

Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6% of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient's asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.

Adolescent↗