Infantile type of homocystinuria with N5,10-methylenetetrahydrofolate reductase defect.

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Abstract
Two infants with homocystinuria and a defective activity of the N5,10-methylenetetrahydrofolate reductase in the liver, kidney, brain and/or leukocytes were reported. Contrary to 4 cases with similar biochemical defects reported to date, these 2 cases demonstrated peculiar clinical features characterized by an early onset in infancy, fits of apnea and seizures, downhill course with coma and death within 1 yr of life. Thus an infantile type of this disorder was advanced as a new clinical entity. Assay for the N5,10-methylenetetrahydrofolate reductase activity using peripheral leukocytes was established and might be useful for a diagnosis of this disorder and also for detection of heterozygotes.