ORPHA:79244
Pyruvate dehydrogenase E2 deficiency
Synonyms: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · Pyruvate dehydrogenase complex component E2 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase E2 deficiency | Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · Pyruvate dehydrogenase complex component E2 deficiency |
| fr | Déficit en pyruvate déshydrogénase E2 | Déficit en acétyltransférase des résidus dihydrolipoyllysine du complexe pyruvate déshydrogénase · Déficit en composé E2 du complexe pyruvate déshydrogenase · Déficit en composé dihydrolipoamide acétyltransférase du complexe pyruvate déshydrogénase |
| de | Pyruvat-Dehydrogenase E2-Mangel | Dihydrolipoamid-S-Acetyltransferase-Mangel · PDH-E2-Mangel |
| es | Deficiencia de piruvato deshidrogenasa E2 | Deficiencia de componente E2 del complejo piruvato deshidrogenasa · Deficiencia de componente dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa · Deficiencia de componente dihidrolipoil-lisina-residuo acetiltransferasa del complejo piruvato deshidrogenasa · Deficiencia de dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa · Deficiencia del componente E2 del complejo piruvato deshidrogenasa |
| it | Deficit di E2 della piruvato deidrogenasi | Deficit dell'acetiltransferasi del residuo di diidrolipoilisina, componente del complesso della piruvato deidrogenasi · Deficit della componente E2 del complesso della piruvato deidrogenasi · Deficit della diidrolipoamide acetiltransferasi, componente del complesso della piruvato deidrogenasi |
| nl | Pyruvaatdehydrogenase E2-deficiëntie | Deficiëntie van component E2 van het pyruvaatdehydrogenasecomplex · Deficiëntie van de dihydrolipoamide-acetyltransferasecomponent van het pyruvaatdehydrogenasecomplex · Deficiëntie van de dihydrolipoyllysineresidu-acetyltransferasecomponent van het pyruvaatdehydrogenasecomplex |
| pt | Deficiência de piruvato desidrogenase E2 | Deficiência da subunidade E2 de piruvato desidrogenase |
| pl | Niedobór dehydrogenazy pirogronianowej E2 | Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · Niedobór dehydrogenazy pirogronianowej kompleksu komponentu E2 |
| cs | Deficit pyruvátdehydrogenázy E2 | Deficit dihydrolipoamid-acetyltransferázového komponentu komplexu pyruvátdehydrogenázy · Deficit dihydrolipoyllysinového-acetyltransferázového komponentu komplexu pyruvátdehydrogenázy · Deficit komponenty E2 komplexu pyruvátdehydrogenázy |
| uk | Дефіцит піруватдегідрогенази Е2 | Дефіцит дигідроліпоамідацетилтрансфераза - компонента піруватдегідрогеназного комплексу · Дефіцит дигідроліпоілізин-залишкового ацетилтрансферазного компонента піруватдегідрогеназного комплексу · Дефіцит компонента Е2 піруватдегідрогеназного комплексу |
| zh | 丙酮酸脱氢酶E2-α缺陷症 | 丙酮酸脱氢酶复合物二氢脂酰胺乙酰转移酶组分缺乏 |
| tr | Pirüvat dehidrojenaz E2 eksikliği | Piruvat dehidrojenaz kompleksi eksikliğinin dihidrolipoililizin kalıntı asetiltransferaz bileşeni · Piruvat dehidrojenaz kompleks bileşeni E2 eksikliği · Piruvat dehidrojenaz kompleksi eksikliğinin dihidrolipoamid asetiltransferaz bileşeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245348 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0009502 | E | validated | |
| MeSH | C565448 | E | validated | |
| UMLS | C1855565 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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 |
|---|---|---|---|---|---|---|---|---|
| DLAT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2896 | ENSG00000150768 | 608770 | 11q23.1 | dihydrolipoamide S-acetyltransferase | 16049940[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.
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HPO phenotypes
32 annotations · validated 2020-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001288 | Gait disturbance | |
| HP:0100503 | Low levels of vitamin B1 | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0031960 | Arm dystonia | |
| HP:0000708 | Atypical behavior | |
| HP:0003487 | Babinski sign | |
| HP:0002136 | Broad-based gait | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0001260 | Dysarthria | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0031139 | Frog-leg posture | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002180 | Neurodegeneration | |
| HP:0002268 | Paroxysmal dystonia | |
| HP:0005656 | Positional foot deformity | |
| HP:0000546 | Retinal degeneration | |
| HP:0025331 | Upgaze palsy | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000726 | Dementia | |
| HP:0004302 | Functional motor deficit | |
| HP:0000252 | Microcephaly | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0011098 | Speech apraxia | |
| HP:0000486 | Strabismus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29093066[PMID]_20022530[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79244
- This record as JSON: /data/d/79244.json