Lipoic acid synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoic acid synthetase deficiency | |
| fr | Déficit en acide lipoïque synthétase | |
| de | Liponsäure-Synthase-Mangel | |
| es | Deficiencia de ácido lipoico sintasa | |
| it | Deficit di acido lipoico sintetasi | |
| nl | Liponzuursynthasedeficiëntie | |
| pt | Défice da sintetase do ácido lipóico | |
| pl | Niedobór syntetazy kwasu liponowego | |
| cs | Deficit syntetázy kyseliny lipoové | |
| uk | Дефіцит синтетази ліпоєвої кислоти | |
| zh | 硫辛酸合成酶缺乏症 | |
| tr | Lipoik asit sentetaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614462 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.Y | NTBT | attributed | validated |
| MONDO | 0013762 | E | validated | |
| UMLS | C5190587 | E | validated | |
| GARD | 12678 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIAS | Disease-causing germline mutation(s) in | Assessed | HGNC:16429 | ENSG00000121897 | 607031 | 4p14 | lipoic acid synthetase | 24334290[PMID]_24777537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24777537[PMID]_22152680[PMID]_24334290[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24777537[PMID]_22152680[PMID]_24334290[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/401859
- This record as JSON: /data/d/401859.json