Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families

Journal of Inherited Metabolic Disease

Volumn 19, Issue 3, 1996, Pages 370-371

  Kirk, J M ^a   Laing, I A ^b   Smith, N ^a   Uttley, W S ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b Simpson Memorial Maternity Pavilion   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; KETONURIA; MALE; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; FEMALE; HUMANS; INFANT, NEWBORN; MALE;

EID: 0029885380     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799271     Document Type: Article

References (3)

1. Brackett JC, Sims HF, Steiner RD, et al (1994) Severe neonatal medium chain acyl-CoA dehydrogenase deficiency. J Clin Invest 94: 1477-1483.
2. Wilcken B, Carpenter KH, Hammond J (1993) Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 69: 292-294.
3. Ziadeh R, Hoffman EP, Finegold DN, et al (1995) Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37: 675-678.