ORPHA:2394
Pyruvate dehydrogenase E3 deficiency
Synonyms: DLD deficiency · Dihydrolipoamide dehydrogenase deficiency · E3-deficient maple syrup urine disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase E3 deficiency | DLD deficiency · Dihydrolipoamide dehydrogenase deficiency · E3-deficient maple syrup urine disease |
| fr | Déficit en pyruvate déshydrogénase E3 | Déficit en DLD · Déficit en dihydrolipoamide déshydrogénase · Leucinose avec déficit en E3 · Maladie des urines sirop d'érable avec déficit en E3 |
| de | Pyruvat-Dehydrogenase E3-Mangel | Ahornsirup-Krankheit, E3-defiziente · DLD-Mangel · Dihydro-Lipoamid-Dehydrogenase-Mangel |
| es | Deficiencia de piruvato deshidrogenasa E3 | Deficiencia de DLD · Deficiencia de dihidrolipoamida deshidrogenasa · Enfermedad de jarabe de arce con deficiencia de E3 |
| it | Deficit di E3 della piruvato deidrogenasi | Deficit di DLD · Deficit di diidrolipoamide deidrogenasi · Malattia della urine a sciroppo d'acero con deficit di E3 |
| nl | Pyruvaatdehydrogenase E3-deficiëntie | DLD-deficiëntie · Deficiëntie van dihydrolipoamidedehydrogenase · E3-deficiënte ahornsiroopurineziekte · E3-deficiënte esdoornsiroopurineziekte · E3-deficiënte maple syrup urine disease |
| pt | Deficiência E3 de piruvato desidrogenase | Deficiência de diidrolipoamida desidrogenase |
| pl | Niedobór dehydrogenazy pirogronianowej E3 | Choroba syropu klonowego z deficytem E3 · Niedobór dehydrogenazy dihydrolipoamidowej · Niedobór DLD |
| cs | Deficit pyruvátdehydrogenázy - deficit E3 podjednotky | Deficit DLD · Deficit dihydrolipoamiddehydrogenázy · Leucinóza - deficit E3 podjednotky · Nemoc javorového sirupu - deficit E3 podjednotky |
| uk | Дефіцит піруватдегідрогенази Е3 | Дефіцит дигідроліпоаміддегідрогенази · Дефіцит DLD · Е3-дефіцитна хвороба сечі кленового сиропу |
| zh | 丙酮酸盐脱氢酶E3缺乏 | 双氢硫辛酰胺脱氢酶缺乏 |
| tr | Piruvat dehidrojenaz E3 eksikliği | DLD eksikliği · E3 eksikliği olan akçaağaç şurubu idrar hastalığı · Dihidrolipoamid dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246900 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0009529 | E | validated | |
| GARD | 3263 | 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 (3):
- ORPHA:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| DLD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2898 | ENSG00000091140 | 238331 | 7q31.1 | dihydrolipoamide dehydrogenase | 24777537[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
28 annotations · validated 2017-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001290 | Generalized hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008344 | Elevated plasma branched chain amino acids | |
| HP:0011968 | Feeding difficulties | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0002240 | Hepatomegaly | |
| HP:0100724 | Hypercoagulability | |
| HP:0001943 | Hypoglycemia | |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration | |
| HP:0001254 | Lethargy | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0001638 | Cardiomyopathy | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001399 | Hepatic failure | |
| HP:0001987 | Hyperammonemia | |
| HP:0010913 | Hyperisoleucinemia | |
| HP:0000252 | Microcephaly | |
| HP:0003394 | Muscle spasm | |
| HP:0007663 | Reduced visual acuity | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 25032271[PMID]_23290025[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2394
- This record as JSON: /data/d/2394.json