3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 443-444

  Al Essa, M ^a   Rashed, M ^a   Ozand, P T ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; HUMAN; HYPOGLYCEMIA; INFANT; MALE; METABOLIC ACIDOSIS; SYNDROME VATER;

ABNORMALITIES, MULTIPLE; HUMANS; INFANT; MALE; OXO-ACID-LYASES;

EID: 0031847019     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005387532004     Document Type: Article

References (4)

1. Ozand PT, Aqeel AA, Gascon G, Brismar J, Thomas E, Gleispach H (1991) 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia: J Inher Metab Dis 14: 174-188.
2. Rashed MS, Ozand PT, Bucknell MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectometry. Pediatr Res 38: 324-331.
3. Sweetman LS (1989) Branched chain organic acidurias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 791-819.
4. Wysocki SJ, Hahnel R (1986) 3-Hydroxy-3-methylglutaryl CoA lyase deficiency; a review. J Inher Metab Dis 9: 225-233.