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Pyruvate dehydrogenase E1-alpha deficiency

Synonyms
ATAXIA WITH LACTIC ACIDOSIS I; ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; X-linked Leigh syndrome
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex Deficiency PDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD; 245349) caused by mutation in the component X gene (PDHX; 608769) on chromosome 11p13; a form (PDHBD; 614111) caused by mutation in the PDHB gene (179060) on chromosome 3p14; a form (PDHDD; 245348) caused by mutation in the DLAT gene (608770) on chromosome 11q23; a form (PDHPD; 608782) caused by mutation in the PDP1 gene (605993) on chromosome 8q22; and a form (PDHLD; 614462) caused by mutation in the LIAS gene (607031) on chromosome 4p14. [from OMIM]

Available tests

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Clinical tests (64 available)

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  • Also known as: E1alpha, PDHA, PDHAD, PDHCE1A, PHE1A, PDHA1
    Summary: pyruvate dehydrogenase E1 subunit alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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