Succinyl-CoA: Acetoacetate transferase deficiency. Identification of a new case; Prenatal exclusion in three further pregnancies

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 687-688

  Rolland, M O ^a   Guffon, N ^a   Mandon, G ^a   Divry, P ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; ENZYME DEFICIENCY; HUMAN; KETOACIDOSIS; MALE; PRESCHOOL CHILD;

CHILD, PRESCHOOL; COENZYME A-TRANSFERASES; FEMALE; HUMANS; MALE; METABOLISM, INBORN ERRORS; PREGNANCY; PRENATAL DIAGNOSIS; RECURRENCE;

EID: 0031721603     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005453105414     Document Type: Article

References (3)

1. Fukao T, Song X, Watanabe H, et al (1996) Prenatal diagnosis of succinyl CoA : 3-ketoacid CoA transferase deficiency. Prenat Diagn 16: 471-474.
2. Leonard JV, Middleton B, Seakins JWT (1987) Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatr Res 21: 211-213.
3. Niezen-Koning KE, Wanders RJA, Ruiter JPN, et al (1997) Succinyl-CoA : acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr 156: 870-873.