J Inherit Metab Dis. 1992;15(4):625-33.

Pyruvate dehydrogenase E1 alpha deficiency.

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Department of Biochemistry, University of Oxford, UK.

Abstract

Pyruvate dehydrogenase (PDH) deficiency has long been recognized as the most common defined cause of primary lactic acidosis in infancy and early childhood. More recently, it has also been described in patients with subacute/chronic neurodegenerative disease without significant metabolic acidosis. The great majority of cases of PDH deficiency result from a genetic defect in the E1 alpha subunit of the complex. PDH E1 alpha deficiency is an X-linked inborn error of metabolism in which a high proportion of heterozygous females manifest the condition. In this review of 29 patients with PDH E1 alpha deficiency, particular emphasis is given to those aspects of the disorder which are specifically related to the X chromosome location of the PDH E1 alpha gene. These include the broad spectrum of clinical presentations and problems of diagnosis, especially antenatal diagnosis, in females.

PMID:: 1528021; [PubMed - indexed for MEDLINE]

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Review

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Pyruvate Dehydrogenase Complex

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X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. [J Inherit Metab Dis. 1992]
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.
Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG, Brown GK. J Inherit Metab Dis. 1992; 15(6):835-47.
Review Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. [Hum Mutat. 2000]
Review Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, et al. Hum Mutat. 2000; 15(3):209-19.
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia. [J Inherit Metab Dis. 1995]
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
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Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
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Review Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. [J Inherit Metab Dis. 1996]
Review Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. J Inherit Metab Dis. 1996; 19(4):452-62.

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Cited by 4 PubMed Central articles

Mutations in the X-linked E1 alpha 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. 1995]
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Am J Hum Genet. 1995 Mar; 56(3):558-69.
Review Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. [Am J Hum Genet. 1995]
Review Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
Dahl HH. Am J Hum Genet. 1995 Mar; 56(3):553-7.
Review Pyruvate dehydrogenase deficiency. [J Med Genet. 1994]
Review Pyruvate dehydrogenase deficiency.
Brown GK, Otero LJ, LeGris M, Brown RM. J Med Genet. 1994 Nov; 31(11):875-9.

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