Pyruvate dehydrogenase e1-alpha deficiency

Preferred Label : Pyruvate dehydrogenase e1-alpha deficiency;

Symbol : PDHAD;

CISMeF acronym : PDHAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyruvate dehydrogenase complex deficiency; Pyruvate decarboxylase deficiency; Ataxia, intermittent, with abnormal pyruvate metabolism; Pdh deficiency; Ataxia, intermittent, with pyruvate dehydrogenase deficiency; Ataxia with lactic acidosis I;

Included titles and symbols : Lactic acidemia, thiamine-responsive;

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 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.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the E1-alpha subunit of the pyruvate dehydrogenase complex (PDHA1, 300502.0001);

Laboratory abnormalities : Increased blood pyruvic acid; Increased blood lactic acid; Increased CSF lactic acid; Increased CSF pyruvic acid; Increased blood alanine; Increased blood ammonia; Increased urinary lactate; Increased urinary pyruvate; Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls); Decreased activity of pyruvate decarboxylase (E1 component);

Prefixed ID : #312170;

Details

Origin ID

312170;

UMLS CUI

C1839413;

Automatic exact mappings (from CISMeF team)
- pyruvate dehydrogenase E1 alpha deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E1 alpha deficiency [MeSH concept]
Broader ORDO disease(s)
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase complex deficiency [ICD-11 Sub-sub category]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Pyruvate dehydrogenase e1, subunit alpha-1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of eye movement [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Apneic episodes precipitated by illness, fatigue, stress [HPO term]
- Basal ganglia cysts [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Chronic lactic acidosis [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Dystonia [HPO term]
- Episodic ataxia [HPO term]
- Flared nostrils [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperalaninemia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Severe lactic acidosis [HPO term]
- Small for gestational age [HPO term]
- Upturned nose [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency [ICD-11 More detail]
- pyruvate dehydrogenase E1 alpha deficiency [MeSH concept]
- pyruvate dehydrogenase E1 alpha deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- pyruvate decarboxylase deficiency [Disease (Nov.)]

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