Lipoyl transferase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoyl transferase 1 deficiency | |
| fr | Déficit en lipoyl transférase 1 | |
| de | Lipoyl-Transferase 1-Mangel | |
| es | Deficiencia de lipoil transferasa 1 | |
| it | Deficit di lipoil transferasi 1 | |
| nl | Lipoyltransferase 1-deficiëntie | |
| pt | Défice de lipoil transferase 1 | |
| pl | Niedobór transferazy liponowej 1 | |
| cs | Deficit lipoyl-1- transferázy | |
| uk | Дефіцит ліпоїлтрансферази 1 | |
| zh | 脂酰转移酶1缺乏症 | |
| tr | Lipoil transferaz 1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616299 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.Y | NTBT | attributed | validated |
| MONDO | 0014576 | E | validated | |
| UMLS | C5190588 | 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 (1):
- ORPHA:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIPT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29569 | ENSG00000144182 | 610284 | 2q11.2 | lipoyltransferase 1 | 24777537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27247813[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27247813[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401862
- This record as JSON: /data/d/401862.json