Progressive encephalopathy with leukodystrophy due to DECR deficiency
Synonyms: 2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive encephalopathy with leukodystrophy due to DECR deficiency | 2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia |
| fr | Encéphalopathie progressive avec leucodystrophie par déficit en DECR | Déficit en 2,4-dienoyl-CoA réductase · Déficit en DECR avec hyperlysinémie |
| de | Progressive Enzephalopathie mit Leukodystrophie durch DECR-Mangel | 2,4-Dienoyl-CoA-Reductase-Mangel · DECR-Mangel mit Hyperlysinämie |
| es | Encefalopatía progresiva con leucodistrofia por deficiencia de DECR | Deficiencia de 2,4-dienoil-CoA reductasa · Deficiencia de DECR con hiperlisinemia |
| it | Encefalopatia progressiva con leucodistrofia da deficit di DECR | Deficit di 2,4-dienoil-CoA reduttasi · Deficit di DECR con iperlisinemia |
| nl | Progressieve encefalopathie met leukodystrofie door DECR-deficiëntie | 2,4-dienoyl-CoA-reductasedeficiëntie · DECR-deficiëntie met hyperlysinemie |
| pt | Encefalopatia progressiva com leucodistrofia por défice de DECR | |
| pl | Postępująca encefalopatia z leukodystrofią spowodowaną niedoborem DECR | Niedobór DECR z hiperlizynemią · Niedobór reduktazy 2,4-dienoilo-CoA |
| cs | Progresivní encefalopatie s leukodystrofií způsobená deficitem DECR | Deficit 2,4-dienoyl-CoA reduktázy · Deficit DECR s hyperlysinemií |
| uk | Прогресуюча енцефалопатія з лейкодистрофією, зумовлена дефіцитом DECR | Дефіцит 2,4-дієнозил-КоА-редуктази · Дефіцит DECR з гіперлізинемією |
| zh | DECR缺乏所致进行性脑病伴脑白质营养不良 | 2,4-二烯酰辅酶A还原酶缺乏症 |
| tr | DECR eksikliğine bağlı lökodistrofi ile seyreden ilerleyici ensefalopati | Hiperlizinemi ile seyreden DECR eksikliği · 2,4-dienoil-CoA redüktaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616034 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | attributed | validated |
| MONDO | 0014464 | E | validated | |
| MeSH | C565624 | E | validated | |
| UMLS | C1857252 | E | validated | |
| GARD | 10327 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NADK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26404 | ENSG00000152620 | 615787 | 5p13.2 | NAD kinase 2, mitochondrial | 24847004[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24847004[PMID]_2332510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24847004[PMID]_2332510[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
28 annotations · validated 2018-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0010967 | Abnormal circulating carnitine concentration | |
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0010536 | Central sleep apnea | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0001266 | Choreoathetosis | |
| HP:0003206 | Decreased activity of NADPH oxidase | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001332 | Dystonia | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0002161 | Hyperlysinemia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002415 | Leukodystrophy | |
| HP:0000252 | Microcephaly | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| HP:0000639 | Nystagmus | |
| HP:0001992 | Organic aciduria | |
| HP:0001733 | Pancreatitis | |
| HP:0002448 | Progressive encephalopathy | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001250 | Seizure | |
| HP:0004897 | Stress/infection-induced lactic acidosis | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 24847004[PMID]_2332510[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/431361
- This record as JSON: /data/d/431361.json