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3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Jakobs, C; Bojasch, M; Duran, M; Ketting, D; Wadman, S K; Leupold, D.

Clin Chim Acta ; 106(1): 85-9, 1980 Sep 08.

Article in English | MEDLINE | ID: mdl-6157502

Subject(s)

Amino Acid Metabolism, Inborn Errors/urine , Butyrates/urine , Crotonates/urine , Oxo-Acid-Lyases/deficiency , Acyl Coenzyme A/deficiency , Humans , Meglutol/analogs & derivatives , Meglutol/deficiency

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.

Lisson, G; Leupold, D; Bechinger, D; Wallesch, C.

Neuroradiology ; 22(2): 99-101, 1981.

Article in English | MEDLINE | ID: mdl-6170906

ABSTRACT

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).

Subject(s)

Brain Diseases/diagnostic imaging , Oxo-Acid-Lyases/deficiency , Tomography, X-Ray Computed , Acyl Coenzyme A/deficiency , Brain Diseases/enzymology , Female , Humans , Infant, Newborn , Leucine/metabolism , Meglutol/analogs & derivatives , Meglutol/deficiency

Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

Ketel, A; Ket, J L; Schutgens, R B; Duran, M; Wadman, S K.

J Inherit Metab Dis ; 3(3): 89-90, 1980.

Article in English | MEDLINE | ID: mdl-6158624

Subject(s)

Oxo-Acid-Lyases/deficiency , Acyl Coenzyme A/deficiency , Acyl Coenzyme A/urine , Amino Acid Metabolism, Inborn Errors/diet therapy , Amino Acid Metabolism, Inborn Errors/therapy , Amino Acid Metabolism, Inborn Errors/urine , Carboxylic Acids/urine , Glucose/administration & dosage , Humans , Infant , Meglutol/analogs & derivatives , Meglutol/deficiency , Meglutol/urine , Oxo-Acid-Lyases/urine

Subject(s)

ABSTRACT

Subject(s)

Subject(s)

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