Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 224-226

  De Meirleir, L ^a   Specola, N ^b   Seneca, S ^a   Lissens, W ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b Department of Pediatrics ^*  (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE DEHYDROGENASE;

CASE REPORT; CHILD; CONFERENCE PAPER; FAMILY; FEMALE; GENE INSERTION; HUMAN; MALE; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SIBLING;

EID: 0031927148     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005347501111     Document Type: Conference Paper

References (5)

1. Bonne G, Benelli C, De Meirleir L, et al (1993) El pyruvate dehydrogenase deficiency in a child with motor neuropathy. Pediatr Res 33: 284-288.
2. Brown GK (1992) Pyruvate dehydrogenase E1α deficiency. J Inher Metab Dis 15: 625-633.
3. Chun K, Mackay N, Petrova-Benedict R, et al (1995) Mutations in the X-linked E1α subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet 56: 558-569.
4. Lissens W, De Meirleir L, Seneca S, et al (1996) Mutation analysis of the pyruvate dehydrogenase E1α gene in 8 patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 7: 46-51.
5. Robinson BH (1995) Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase). In Scriver CR, Beaudet AL, Sly WS, Valle D, eds The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1479-1499.