ORPHA:79243
Pyruvate dehydrogenase E1-alpha deficiency
Synonyms: PDHAD · Pyruvate decarboxylase deficiency · Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase E1-alpha deficiency | PDHAD · Pyruvate decarboxylase deficiency · Pyruvate dehydrogenase complex E1 component subunit alpha deficiency |
| fr | Déficit en pyruvate déshydrogénase E1-alpha | Déficit en pyruvate décarboxylase · Déficit en sous-unité E1 alpha du complexe pyruvate déshydrogénase · PDHAD |
| de | Pyruvat-Dehydrogenase E1-alpha-Mangel | E1-alpha-Untereinheit-Mangel des PDH-Komplex · PDHAD · Pyruvat-Decarboxylase-Mangel |
| es | Deficiencia de piruvato deshidrogenasa E1-alfa | Deficiencia de piruvato descarboxilasa · Deficiencia de subunidad E1 alfa del complejo piruvato deshidrogenasa · PDHAD |
| it | Deficit di E1-alfa della piruvato deidrogenasi | Deficit della piruvato decarbossilasi · Deficit della subunità alfa della componente E1 della piruvato deidrogenasi · PDHAD |
| nl | Pyruvaatdehydrogenase E1-alfa-deficiëntie | Deficiëntie van component E1-alfa van het pyruvaatdehydrogenasecomplex · PDHAD · Pyruvaatdecarboxylasedeficiëntie |
| pt | Deficiência de piruvato desidrogenase E1-alfa | Deficiência de E1 |
| pl | Niedobór dehydrogenazy pirogronianowej E1-alfa | Niedobór dehydrogenazy pirogronianowej · Niedobór dehydrogenazy pirogronianowej kompleksu E1 komponentu podjednostki alfa · PDHAD |
| cs | Deficit pyruvátdehydrogenázy E1-alfa | PDHAD · Deficit pyruvát dekarboxylázy · Deficit alfa podjednotky E1 komponenty pyruvát dehydrogenázového komplexu |
| uk | Дефіцит піруватдегідрогенази Е1-альфа | PDHAD · Дефіцит піруватдекарбоксилази · Дефіцит альфа-субодиниці комплексу піруватдегідрогенази Е1 |
| zh | 丙酮酸脱氢酶E1-α缺陷症 | 丙酮酸脱氢酶复合物E1组分亚基α缺乏症 |
| tr | Pirüvat dehidrojenaz E1-alfa eksikliği | PDHAD · Piruvat dekarboksilaz eksikliği · Piruvat dehidrojenaz kompleksi E1 bileşeni alt birim alfa eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312170 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0010717 | E | validated | |
| MeSH | C564071 | E | validated | |
| UMLS | C1839413 | E | validated | |
| GARD | 4620 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:765Pyruvate dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LONP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9479 | ENSG00000196365 | 605490 | 19p13.2 | lon peptidase 1, mitochondrial | 30304514[PMID] |
| PDHA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8806 | ENSG00000131828 | 300502 | Xp22.12 | pyruvate dehydrogenase E1 subunit alpha 1 | 10679936[PMID]_15384102[PMID]_20002461[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
55 annotations · validated 2020-10-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0025361 | Abnormality of medullary pyramid morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002059 | Cerebral atrophy | |
| HP:0004902 | Congenital lactic acidosis | |
| HP:0011196 | EEG with focal sharp waves | |
| HP:0011193 | EEG with focal spikes | |
| HP:0011199 | EEG with generalized sharp slow waves | |
| HP:0002171 | Gliosis | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003128 | Lactic acidosis | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0030917 | Low APGAR score | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001251 | Ataxia | |
| HP:0006799 | Basal ganglia cysts | |
| HP:0006999 | Basal ganglia gliosis | |
| HP:0012128 | Basal ganglia necrosis | |
| HP:0000618 | Blindness | |
| HP:0002350 | Cerebellar cyst | |
| HP:0012698 | Cerebellar gliosis | |
| HP:0002329 | Drowsiness | |
| HP:0001332 | Dystonia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002540 | Inability to walk | |
| HP:0012469 | Infantile spasms | |
| HP:0010576 | Intracranial cystic lesion | |
| HP:0009826 | Limb undergrowth | |
| HP:0000252 | Microcephaly | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001761 | Pes cavus | |
| HP:0002126 | Polymicrogyria | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002719 | Recurrent infections | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001883 | Talipes | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 1528021[PMID]_28584645[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79243
- This record as JSON: /data/d/79243.json