The diagnosis of mitochondrial HMG-CoA synthase deficiency

Journal of Pediatrics

Volumn 140, Issue 6, 2002, Pages 778-780

  Zschocke, Johannes ^a,b,c,d   Penzien, Johannes M ^a,b,c,d   Bielen, Rainer ^a,b,c,d   Casals, Núria ^a,b,c,d   Aledo, Rosa ^a,b,c,d   Pié, Juan ^a,b,c,d   Hoffmann, Georg F ^a,b,c,d   Hegardt, Fausto G ^a,b,c,d   Mayatepek, Ertan ^a,b,c,d  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; FATTY ACID; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; KETONE; MITOCHONDRIAL ENZYME;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FATTY ACID METABOLISM; FEMALE; GENE MUTATION; HUMAN; HYPOGLYCEMIC COMA; INBORN ERROR OF METABOLISM; INFANT; KETOGENESIS; PRIORITY JOURNAL;

EID: 0036089694     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.123854     Document Type: Article

References (6)

1. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: A control enzyme in ketogenesis
2. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
3. Hepatic mitochondrial 3-hydroxy-3methylglutaryl-coenzyme a synthase deficiency
4. The genetic basis of mitochondrial HMG-CoA synthase deficiency
5. Mitochondrial 3-hydroxy-3methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients
6. The nature and mechanisms of human gene mutations