Lipoyl transferase 2 deficiency
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- No data available
- Status
- active
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoyl transferase 2 deficiency | |
| fr | Déficit en lipoyl transférase 2 | |
| de | Lipoyl-Transferase 2-Mangel | |
| es | Deficiencia de lipoil transferasa 2 | |
| it | Deficit di lipoil transferasi 2 | |
| nl | Lipoyltransferase 2-deficiëntie | |
| pt | Défice de lipoil transferase 2 | |
| pl | Niedobór transferazy liopnianowej 2 | |
| cs | Deficit lipoyl transferázy 2 | |
| uk | Дефіцит ліпоїлтрансферази 2 | |
| zh | 脂酰转移酶2缺乏症 | |
| tr | Lipoil transferaz 2 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617668 | E | validated | |
| ICD-10 | E78.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.Y | NTBT | attributed | validated |
| MONDO | 0018651 | E | validated | |
| UMLS | C5681203 | 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:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447795
- This record as JSON: /data/d/447795.json