Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.

Stokke, O; Eldjarn, L; Jellum, E; Pande, H; Waaler, P E

Stokke, O; Eldjarn, L; Jellum, E; Pande, H; Waaler, P E.

Pediatrics ; 49(5): 726-35, 1972 May.

Article in En | MEDLINE | ID: mdl-5035417

Subject(s)

Amino Acid Metabolism, Inborn Errors; Leucine/metabolism; Ligases; Amino Acid Metabolism, Inborn Errors/therapy; Amino Acid Metabolism, Inborn Errors/urine; Biotin/therapeutic use; Bronchopneumonia/complications; Butyrates/urine; Carbon Dioxide; Carbon-Carbon Ligases; Chromatography, Gas; Diet Therapy; Female; Glycine/urine; Humans; Infant; Mass Spectrometry; Neurologic Manifestations; Odorants; Pentanols/urine; Valerates/urine

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PubMed Links

Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Leucine / Ligases Limits: Female / Humans / Infant Language: En Year: 1972 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Leucine / Ligases Limits: Female / Humans / Infant Language: En Year: 1972 Type: Article