ORPHA:71212
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency · Hyperinsulinism due to glutamodehydrogenase deficiency · SCHAD deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; <i>HADH</i> gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency · Hyperinsulinism due to glutamodehydrogenase deficiency · SCHAD deficiency |
| fr | Hyperinsulinisme par déficit en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte | Déficit en SCHAD · Hyperinsulinisme par déficit en SCHAD · Hyperinsulinisme par déficit en glutamodéshydrogénase · Hypoglycémie hyperinsulinémique par déficit en en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte |
| de | Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel | Hyperinsulinismus durch Glutamatdehydrogenase-Mangel · Hyperinsulinismus durch SCHAD-Mangel · Hyperinsulinämische Hypoglykämie durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel · SCHAD-Mangel |
| es | Hiperinsulinismo por deficiencia de 3-hidroxilacil-CoA deshidrogenasa de cadena corta | Deficiencia de HADH · Deficiencia de SCHAD · Hiperinsulinismo por deficiencia de HADH · Hiperinsulinismo por deficiencia de SCHAD · Hiperinsulinismo por deficiencia de glutamodeshidrogenasa · Hipoglucemia hiperinsulinémica por deficiencia de 3-hidroxilacil-CoA deshidrogenasa de cadena corta |
| it | Iperinsulinismo da deficit di 3-idrossiacil-CoA deidrogenasi a catena corta | Iperinsulinismo da deficit di 3-idrossiacil-CoA deidrogenasi a catena corta · Iperinsulinismo da deficit di HADH · Iperinsulinismo da deficit di SCHAD · Iperinsulinismo da deficit di glutammato deidrogenasi · Ipoglicemia iperinsulinemica da deficit di 3-idrossiacil-CoA deidrogenasi · Ipoglicemia iperinsulinemica da deficit di 3-idrossilacil-CoA deidrogenasi a catena corta |
| nl | Hyperinsulinisme door deficiëntie van korte-keten-3-hydroxylacyl-CoA-dehydrogenase | Hyperinsulinemische hypoglycemie door deficiëntie van korte-keten-3-hydroxylacyl-CoA-dehydrogenase · Hyperinsulinisme door deficiëntie van SCHAD · Hyperinsulinisme door deficiëntie van glutamodehydrogenase · SCHAD-deficiëntie |
| pt | Deficiência de 3-hidroxilacil-CoA desidrogenase | Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias média e curtas · Deficiência de HAD · M/SCHAD |
| pl | Hiperinsulinizm spowodowany niedoborem dehydrogenazy 3-hydroksyacyl-CoA | Niedobór SCHAD · Hiperinsulinizm spowodowany niedoborem SCHAD · Hiperinsulinizm spowodowany niedoborem glutamodehydrogenazy · Hiperinsulinizm spowodowany niedoborem dehydrogenazy krótkich łańcuchów 3-hydroksyacylo-CoA · Hiperinsulinizm spowodowany niedoborem dehydrogenazy 3-hydroksyacyl-CoA |
| cs | Hyperinzulinismus způsobený deficitem dehydrogenázy 3-hydroxyacyl-CoA s krátkým řetězcem | Deficit HADH · Deficit SCHAD · Hyperinzulinemická hypoglykémie způsobená deficitem dehydrogenázy 3-hydroxyacyl-CoA s krátkým řetězcem · Hyperinzulinismus způsobený deficitem HADH · Hyperinzulinismus způsobený deficitem SCHAD · Hyperinzulinismus způsobený deficitem glutamátdehydrogenázy |
| uk | Гіперінсулінізм внаслідок дефіциту коротколанцюгової 3-гідроксилацил-КоА-дегідрогенази | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту коротколанцюгової 3-гідроксилацил-КоА-дегідрогенази · Гіперінсулінізм через дефіцит глутамодегідрогенази · Гіперінсулінізм через дефіцит SCHAD · Дефіцит SCHAD |
| zh | 短链3-羟酰CoA脱氢酶缺乏所致高胰岛素血症 | 谷氨酸脱氢酶缺乏所致高胰岛素血症 |
| tr | Kısa zincirli 3-hidroksilaçil-KoA dehidrojenaz eksikliğine bağlı hiperinsülinizm | Kısa zincirli 3-hidroksilasil-CoA dehidrojenaz eksikliğine bağlı hiperinsülinemik hipoglisemi · SCHAD eksikliği · SCHAD eksikliğine bağlı hiperinsülinizm · Glutamodehidrojenaz eksikliğine bağlı hiperinsülinizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231530 | NTBT | validated | |
| OMIM | 609975 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| UMLS | C4303473 | E | validated | |
| GARD | 9870 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:3091273-hydroxyacyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:165985Diazoxide-sensitive diffuse hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:225696Energy metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:35123OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HADH | Disease-causing germline mutation(s) in | Assessed | HGNC:4799 | ENSG00000138796 | 601609 | 4q25 | hydroxyacyl-CoA dehydrogenase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
36 annotations · validated 2017-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | |
| Very frequent (99-80%) | ||
| HP:0012071 | Abnormality of acetylcarnitine metabolism | |
| HP:0001289 | Confusion | |
| HP:0002014 | Diarrhea | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0006929 | Hypoglycemic encephalopathy | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0030796 | Increased C-peptide level | |
| HP:0030781 | Increased circulating free fatty acid level | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001254 | Lethargy | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0003508 | Proportionate short stature | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001987 | Hyperammonemia | |
| HP:0003128 | Lactic acidosis | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0001270 | Motor delay | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0008151 | Prolonged prothrombin time | |
| Very rare (<4-1%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002605 | Hepatic necrosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002913 | Myoglobinuria | |
| HP:0001657 | Prolonged QT interval | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21967988[PMID]_904979[PMID]_904979[PMID]_1835339[PMID]_8736409[PMID]_10347277[PMID]_10931422[PMID]_11489939[PMID]_12400064[PMID]_14693719[PMID]_16176262[PMID]_23430856[PMID]_25141826[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71212
- This record as JSON: /data/d/71212.json