Pyruvate Dehydrogenase E1-alpha Deficiency; Pdhad

Description

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 DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

Clinical Features

Top most frequent phenotypes and symptoms related to Pyruvate Dehydrogenase E1-alpha Deficiency; Pdhad

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Strabismus
  • Abnormal facial shape
  • Muscular hypotonia

And another 63 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pyruvate Dehydrogenase E1-alpha Deficiency; Pdhad Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency, pyruvate decarboxylase deficiency, pdh deficiency, ataxia with lactic acidosis i, ataxia, intermittent, with abnormal pyruvate metabolism, pyruvate dehydrogenase complex deficiency.

Researches and researchers

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Pyruvate Dehydrogenase E1-alpha Deficiency; Pdhad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
PDHA1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDHA1
Specificity
100 %
Genes
100 %
PDHA1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDHA1
Specificity
100 %
Genes
100 %
PDHA1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDHA1
Specificity
100 %
Genes
100 %
PDHA1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PDHA1
Specificity
100 %
Genes
100 %
PDHA1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PDHA1
Specificity
100 %
Genes
100 %
Pyruvate Dehydrogenase Complex - PDHA1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

PDHA1
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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