At the age of 6 months, he exhibited hypotonia and minimal dystonic movements of the upper limbs. In the first week of life, the patient's blood leucine was found to be 5 mg/dl, but the patient was left on a normal diet.
(1986) reported a patient with E3-deficient MSUD. (1982) reported a 6-month-old girl with vomiting, hypotonia, and motor retardation who had combined chemical features of lactic acidosis, maple syrup urine disease, and ketoglutaric aciduria. In cultured fibroblasts, the E3 component was 23% of the control mean. The patient had neonatal hypothermia, failure to thrive, and metabolic acidosis. (1981) found that oral administration of lipoic acid resulted in almost complete clearance of abnormal organic aciduria and lactic and pyruvic acidemia, with clinical improvement. In a case of E3 deficiency, Matalon et al. (1981) concluded that the deficiency in Friedreich ataxia is likely a secondary phenomenon. A primary deficiency of this enzyme had been suggested as the basic defect in Friedreich ataxia ( 229300), but Robinson et al. The parents were normal in both cases, but the parents of 1 patient had decreased enzyme activity at about 30 to 42% of normal, supporting recessive inheritance. Postmortem tissue analysis showed deficiency of the pyruvate dehydrogenase complex, and specifically of dihydrolipoyl dehydrogenase, or E3. He had elevated blood pyruvate, lactate, alpha-ketoglutarate, and branched-chain amino acids, as well as occasional hypoglycemia. He was well until age 8 weeks, when he abruptly became ill with irregular labored respiration, increased muscle tone, bilateral optic atrophy, and metabolic acidosis.
(1977) reported a male child, born of Caucasian first-cousin parents, who died at age 7 months with progressive neurologic deterioration and persistent metabolic acidosis.
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