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Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.
A variety of evidence indicates that patients with this type of homocystinuria are not deficient in cystathionine synthase activity, and a deficiency of this reductase activity can explain the biochemical abnormalities in these patients. Expand
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
Kinetic data suggested the posibility of several forms of pyruvate decarboxylase in this family, and possible mechanisms relating the chemical abnormality and the clinical symptoms in this patient are discussed. Expand
Homocystinuria with methylmalonic aciduria: two cases in a sibship.
Clinical and biochemical findings in two brothers each of whom has homocystinuria and methylmalonic aciduria may tentatively be ascribed to a defect in the uptake or early metabolism of B12, the condition most likely being inherited as an autosomal recessive trait. Expand
Fabry's Disease: Antenatal Detection
The validity of Fabry's disease was substantiated by multiple enzyme and lipid analyses of tissue specimens obtained from the afflicted fetus, and it was included with other X-linked metabolic deficiency diseases that are amenable to precise genetic counseling, through carrier identification, and the monitoring of ensuing pregnancies. Expand
Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in Homocystinuria
The enzyme lesion in homocystinuria is demonstrable in readily available human cells and neither cystathionine synthase nor methionine-activating enzyme could be detected in intact normal skin. Expand
β-Galactosidase in Tissue Culture Derived from Human Skin and Bone Marrow: Enzyme defect in GM1 Gangliosidosis
The presnce of a β-galactosidase capable of releasing the terminal galactose from ganglioside GM1 in fibroblasts derived from amniotic fluid offers a basis for possible intrauterine diabnosis of GM1 ganagliosidosis. Expand
Deranged B12 metabolism: Studies of fibroblasts grown in tissue culture
All the available data are consistent with the hypothesis that cells from the patient are deficient in their ability to accumulate coenzymatically active derivatives of B12 with resultant deficits in the activities of N5-methyltetrahydrofolate methyltransferase and methylmalonyl-CoA isomerase, the two enzymes known in mammals to depend upon B12 derivatives. Expand
Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.
Abstract A defect in phytanic acid oxidation was demonstrated in cultured fibroblasts derived from skin biopsies of 11 patients with Refsum's disease (heredopathia atactica polyneuritiformis, or HA...
Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications.
Automated serum enzyme assays may be useful for large scale screening of heterozygous carriers of lipid storage diseases, and in combination with intrauterine diagnosis could lead to the preventive control of such disorders. Expand
Refsum's Disease: Nature of the Enzyme Defect
The results indicate that the enzymatic defect in Refsum's disease is in the first step of the pathway for degradation of phytanic acid, that is, in the unusual alpha-oxidative process that leads to a shortening of phydanic acid by one carbon atom. Expand