Pyruvate dehydrogenase complex deficiency
PDH deficiency

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Description from OMIM

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 11p; a form (PDHBD; 614111) caused by mutation in the PDHB gene (179060) on chromosome 3p; a form (PDHDD; 245348) caused by mutation in the DLAT gene (608770) on chromosome 11q; 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.



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Lactate accumulation multi 100 % 22079328 2014-05-06
Developmental delay nervous 57 % 22079328 2014-05-06
Hypotonia nervous 46 % 22079328 2014-05-06
Ventriculomegaly nervous 35 % 22079328 2014-05-06
Corpus callosum agenesis nervous 31 % 22079328 2014-05-06
Seizures nervous 26 % 22079328 2014-05-06
Microcephaly nervous 22 % 22079328 2014-05-06
Ataxia nervous 19 % 22079328 2014-05-06
Cerebral atrophy nervous 19 % 22079328 2014-05-06
Respiratory distress respiratory 14 % 22079328 2014-05-06
Basal ganglia pathology nervous 14 % 22079328 2014-05-06
Facial dysmorphism skeletal 11 % 22079328 2014-05-06
Spasticity nervous 10 % 22079328 2014-05-06
Neuropathy nervous 7 % 22079328 2014-05-06
Optic atrophy nervous 4 % 22079328 2014-05-06
Nystagmus nervous 3 % 22079328 2014-05-06
Ptosis nervous 3 % 22079328 2014-05-06
Chorea nervous 2 % 22079328 2014-05-06
Strabismus nervous 2 % 22079328 2014-05-06



List of references:


The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole,

Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease.

Molecular genetics and metabolism - Jan 2012