Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.

Adolescent Adult Amino Acid Metabolism, Inborn Errors/complications Biopsy, Needle Child Child, Preschool Cystathionine Female Heterozygote Homocysteine Homocystinuria/drug therapy,enzymology,etiology,genetics Humans Hydro-Lyases/metabolism Liver/metabolism,pathology Male Methionine Mitochondria, Liver Pyridoxine/therapeutic use Transferases/metabolism Transketolase/metabolism

Homocysteine Cystathionine Methionine Transferases Transketolase Hydro-Lyases Pyridoxine