Bifunctional enzyme deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bifunctional enzyme deficiency | |
| fr | Déficit en enzyme bifonctionnelle | |
| de | D-bifunktionales Enzym-Mangel | |
| es | Deficiencia de enzima bifuncional | |
| it | Deficit dell'enzima bifunzionale | |
| nl | Deficiëntie van bifunctioneel enzym | |
| pt | Deficiência de enzima bifuncional | |
| pl | Niedobór enzymu dwufunkcyjnego | |
| cs | Deficit bifunkčních enzymů | |
| uk | Дефіцит біфункціонального ферменту | |
| zh | 双功能酶缺乏 | |
| tr | Bifonksiyonel enzim eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261515 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MONDO | 0009855 | E | validated | |
| UMLS | C0342870 | E | validated | |
| GARD | 4539 | 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 (2):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79188Peroxisomal beta-oxidation disorder
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2981Pseudo-Zellweger syndrome moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EHHADH | Disease-causing germline mutation(s) in | Assessed | HGNC:3247 | ENSG00000113790 | 607037 | 3q27.2 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | 9501266[PMID] |
| HSD17B4 | Disease-causing germline mutation(s) in | Assessed | HGNC:5213 | ENSG00000133835 | 601860 | 5q23.1 | hydroxysteroid 17-beta dehydrogenase 4 | 9915948[PMID]_24553428[PMID]_25967389[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.02 / 100 000 | Worldwide | Value and class | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300
- This record as JSON: /data/d/300.json