ORPHA:5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms: LCHAD deficiency · LCHADD · Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | LCHAD deficiency · LCHADD · Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
| fr | Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue | Déficit en 3-hydroxyacyl-coenzyme A déshydrogénase des acides gras à chaîne longue · Déficit en LCHAD · LCHADD |
| de | Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel | LCHAD-Mangel · LCHADD · Langketten-3-Hydroxyacyl-Coenzym A-Dehydrogenase-Mangel |
| es | Deficiencia de 3-hidroxiacil-CoA deshidrogenasa de cadena larga | Deficiencia de 3-hidroxiacil-coenzima A deshidrogenasa de cadena larga · Deficiencia de LCHAD · LCHADD |
| it | Deficit di 3-idrossiacil-CoA deidrogenasi a catena lunga | Deficit di LCHAD · LCHADD |
| nl | Lange keten 3-hydroxyacyl-CoA-dehydrogenasedeficiëntie | LCHAD-deficiëntie · LCHADD · Lange keten 3-hydroxyacyl-co-enzym A-dehydrogenasedeficiëntie |
| pt | Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias longas | Deficiência de LCHAD |
| pl | Niedobór dehydrogenazy długich łańcuchów 3-hydroksyacetylo-CoA | LCHADD · Niedobór LCHAD · Niedobór dehydrogenazy długich łańcuchów 3-hydroksyacetylo-koenzymu A |
| cs | Deficit dehydrogenázy 3-hydroxyacyl-CoA s dlouhým řetězcem | Deficit LCHAD · LCHADD |
| uk | Дефіцит довголанцюгової 3-гідроксиацил-КоА-дегідрогенази | Дефіцит LCHAD · LCHADD · Дефіцит довголанцюгового 3-гідроксиацил-коензиму А дегідрогенази |
| zh | 长链3-羟基乙酰基-CoA脱氢酶缺乏 | 长链3-羟基乙酰基-CoA脱氢酶缺乏 |
| tr | Uzun zincirli 3-hidroksiaçil-KoA dehidrojenaz eksikliği | LCHADD · LCHAD eksikliği · Uzun zincirli 3-hidroksiasil-koenzim A dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609016 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0012173 | E | validated | |
| UMLS | C3711645 | E | validated | |
| GARD | 6867 | E | validated | |
| MedDRA | 10072653 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:3091273-hydroxyacyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217591Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HADHA | Disease-causing germline mutation(s) in | Assessed | HGNC:4801 | ENSG00000084754 | 600890 | 2p23.3 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Australia | Value and class | Validated | 20373143[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | United States | Value and class | Validated | 20373143[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Germany | Value and class | Validated | 15896654[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Sweden | Value and class | Validated | 7564259[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Poland | Value and class | Validated | 20814823[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.09 / 100 000 | Estonia | Value and class | Validated | 23430857[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.24 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Specific population | Value and class | Validated | 33239050[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.
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HPO phenotypes
25 annotations · validated 2017-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001943 | Hypoglycemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0000613 | Photophobia | |
| Frequent (79-30%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000577 | Exotropia | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001252 | Hypotonia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0000532 | Chorioretinal abnormality | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0030856 | Posterior staphyloma | |
| HP:0000488 | Retinopathy | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18162058[PMID]_11773547[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/5
- This record as JSON: /data/d/5.json