ORPHA:255182
Pyruvate dehydrogenase E3-binding protein deficiency
Synonyms: 2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency · Diaphorase deficiency · Dihydrolipoyl dehydrogenase deficiency · Glycine cleavage system L protein deficiency · Lipoamide dehydrogenase deficiency · Pyruvate dehydrogenase complex component E3 deficiency · Pyruvate dehydrogenase protein X component deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase E3-binding protein deficiency | 2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency · Diaphorase deficiency · Dihydrolipoyl dehydrogenase deficiency · Glycine cleavage system L protein deficiency · Lipoamide dehydrogenase deficiency · Pyruvate dehydrogenase complex component E3 deficiency · Pyruvate dehydrogenase protein X component deficiency |
| fr | Déficit en protéine de liaison E3 du complexe pyruvate déshydrogénase | Déficit en complexe 2-oxoglutarate · Déficit en complexe déshydrogénase des alpha-cétoacides à chaînes ramifiées · Déficit en composé E3 du complexe pyruvate déshydrogénase · Déficit en diaphorase · Déficit en dihydrolipoyl déshydrogénase · Déficit en lipoamide déshydrogénase · Déficit en protéine L du système de clivage de la glycine · Déficit en protéine X du complexe pyruvate déshydrogénase |
| de | Pyruvat-Dehydrogenase-E3-bindendes Protein-Mangel | 2-Oxo-Glutarat-Komplex-Mangel · Diaphorase-Mangel · Dihydrolipoamid-Dehydrogenase-bindendes Protein-Mangel des Pyruvat-Dehydrogenase-Komplex · Dihydrolipoyl-Dehydrogenase-Mangel · GCSL-Mangel · Lipoamid-Dehydrogenase-Mangel · Pyruvat-Dehydrogenase-Protein-X-Komponenten-Mangel · Verzweigtkettige-alpha-Ketosäuren-Dehydrogenase-Komplex-Mangel |
| es | Deficiencia de la proteína de unión E3 de la piruvato deshidrogenasa | Deficiencia de diaforasa · Deficiencia de dihidrolipoil deshidrogenasa · Deficiencia de lipoamida deshidrogenasa · Deficiencia de proteína X del complejo piruvato deshidrogenasa · Deficiencia del complejo 2-oxo-glutarato · Deficiencia del complejo de deshidrogenasas de cetoácidos de cadena ramificada · Deficiencia del componente E3 del complejo piruvato deshidrogenasa · Deficiencia en la proteína L del sistema de clivaje de la glicina |
| it | Deficit della proteina legante E3 della piruvato deidrogenasi | Deficit del complesso 2-oxo-glutarato · Deficit del complesso della chetoacido deidrogenasi a catena ramificata · Deficit della componente E3 del complesso della piruvato deidrogenasi · Deficit della componente proteica X della piruvato deidrogenasi · Deficit della proteina L del sistema di clivaggio della glicina · Deficit di diaforasi · Deficit di diidrolipoil deidrogenasi · Deficit di lipoamide deidrogenasi |
| nl | Pyruvaatdehydrogenase E3-bindend proteïnedeficiëntie | 2-oxo-glutaraatcomplexdeficiëntie · Diaforasedeficiëntie · Dihydrolipoyldehydrogenasedeficiëntie · Glycine-cleavagesysteem L-proteïnedeficiëntie · Lipoamidedehydrogenasedeficiëntie · Pyruvaatdehydrogenase proteïne X-componentdeficiëntie · Pyruvaatdehydrogenasecomplex component E3-deficiëntie · Vertakte keten-ketozuurdehydrogenasecomplexdeficiëntie |
| pt | Deficiência de proteína de ligação E3 da piruvato desidrogenase | Deficiência da proteína de ligação a E3 · Deficiência de componente X da proteína da piruvato desidrogenase · Deficiência do componente X do complexo desidrogenase piruvato contendo lipoil · Proteína de ligação de dihidrolipoamido desidrogenase do complexo desidrogenase-piruvato |
| pl | Niedobór białka wiążącego E3 dehydrogenazy pirogronianowej | Dihydrolipoyl dehydrogenase deficiency · Glycine cleavage system L protein deficiency · Niedobór dehydrogenazy lipamidowej · Niedobór diaforazy · Niedobór kompleksu 2-oksoglutarowego · Niedobór kompleksu dehydrogenazy rozgałęzionych łańcuchów alfa-ketokwasów · Niedobór składnika białka X dehydrogenazy pirogronianowej · Niedobór składnika kompleksu E dehydrogenazy pirogronianowej |
| cs | Deficit E3-binding proteinu pyruvát dehydrogenázy | Deficit komplexu 2-oxoglutarátu · Deficit diaforázy · Deficit dihydrolipoyl dehydrogenázy · Deficit lipoamid dehydrogenázy · Deficit komponenty E3 komplexu pyruvát dehydrogenázy · Deficit komponenty proteinu X pyruvát dehydrogenázy · Deficit komplexu dehydrogenázy rozvětveného řetězce alfa-ketokyselin · Deficit proteinu L v systému štěpení glycinu |
| uk | Дефіцит E3-звязуючого білка піруватдегідрогенази | Дефіцит 2-оксоглутаратного комплексу · Дефіцит альфа-кетокислотного дегідрогеназного комплексу з розгалуженим ланцюгом · Дефіцит діафорази · Дефіцит дигідроліпоїлдегідрогенази · Дефіцит білка системи розщеплення гліцину L · Дефіцит ліпоаміддегідрогенази · Дефіцит компонента Е3 піруватдегідрогеназного комплексу · Дефіцит компонента протеїну Х піруватдегідрогенази |
| zh | 丙酮酸脱氢酶E3结合蛋白缺陷病 | 支链α-酮酸脱氢酶复合物缺乏症 |
| tr | Piruvat dehidrojenaz E3 bağlayıcı protein eksikliği | Diyaforaz eksikliği · 2-oksoglutarat kompleks eksikliği · Lipoamid dehidrojenaz eksikliği · Dihidrolipoyil dehidrogenaz eksikliği · Glisin yarıklanma sistemi L protein eksikliği · Piruvat dehidrogenaz protein X bileşen eksikliği · Piruvat dehidrojenaz kompleks bileşeni E3 eksikliği · Dallı zincirli alfa-ketoasit dehidrojenaz kompleksi eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245349 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0009503 | E | validated | |
| MeSH | C565447 | E | validated | |
| UMLS | C1855553 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDHX | Disease-causing germline mutation(s) in | Assessed | HGNC:21350 | ENSG00000110435 | 608769 | 11p13 | pyruvate dehydrogenase complex component X | 9399911[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
23 annotations · validated 2020-10-14| 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 | |
| Frequent (79-30%) | ||
| HP:0010915 | Abnormal circulating pyruvate family amino acid concentration | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0003128 | Lactic acidosis | |
| HP:0001250 | Seizure | |
| HP:0001264 | Spastic diplegia | |
| HP:0002273 | Tetraparesis | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0008936 | Axial hypotonia | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0007109 | Periventricular cysts | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002059 | Cerebral atrophy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25087164[PMID]_22079328[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/255182
- This record as JSON: /data/d/255182.json