ORPHA:391428
HSD10 disease, infantile type
Synonyms: 2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type · HSD10 deficiency, classic type · HSD10 deficiency, infantile type · HSD10 disease, classic type · MHBD deficiency, classic type · MHBD deficiency, infantile type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HSD10 disease, infantile type | 2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type · HSD10 deficiency, classic type · HSD10 deficiency, infantile type · HSD10 disease, classic type · MHBD deficiency, classic type · MHBD deficiency, infantile type |
| fr | Maladie HSD10 type infantile | Acidurie 2-méthyl-3-hydroxybutyrique type classique · Acidurie 2-méthyl-3-hydroxybutyrique type infantile · Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type classique · Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type infantile · Déficit en HSD10 type classique · Déficit en HSD10 type infantile · Déficit en MHBD type classique · Déficit en MHBD type infantile · Maladie HSD10 type classique |
| de | HSD10-Krankheit, infantiler Typ | 2-Methyl-3-Hydroxybutyrazidurie, infantiler Typ · 2-Methyl-3-Hydroxybutyrazidurie, klassischer Typ · 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, infantiler Typ · 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, klassischer Typ · HSD10-Krankheit, klassischer Typ · HSD10-Mangel, infantiler Typ · HSD10-Mangel, klassischer Typ · MHBD-Mangel, infantiler Typ · MHBD-Mangel, klassischer Typ |
| es | Enfermedad de HSD10 tipo infantil | Aciduria 2-metil-3-hidroxibutírica tipo clásico · Aciduria 2-metil-3-hidroxibutírica tipo infantil · Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo clásico · Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo infantil · Deficiencia de HSD10 tipo clásico · Deficiencia de HSD10 tipo infantil · Deficiencia de MHBD tipo clásico · Deficiencia de MHBD tipo infantil · Enfermedad de HSD10 tipo clásico |
| it | Malattia HSD10, forma infantile | Aciduria 2-metil-3-idrossibutirril-CoA deidrogenasi, forma classica · Aciduria 2-metil-3-idrossibutirril-CoA deidrogenasi, forma infantile · Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma classica · Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma infantile · Deficit di HSD10, forma classica · Deficit di HSD10, forma infantile · Deficit di MHBD, forma classica · Deficit di MHBD, forma infantile · Malattia HSD10, forma classica |
| nl | HSD10-ziekte, infantiel type | 2-methyl-3-hydroxybutaanzuuracidurie, infantiel type · 2-methyl-3-hydroxybutaanzuuracidurie, klassiek type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, infantiel type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, klassiek type · HSD10-deficiëntie, infantiel type · HSD10-deficiëntie, klassiek type · HSD10-ziekte, klassiek type · MHBD-deficiëntie, klassiek type · MHDB-deficiëntie, infantiel type |
| pt | Doença HSD10, tipo infantil | |
| pl | Choroba HSD10 typ dziecięcy | Acyduria 2-metylo-3-hydroksymasłowa, typ dziecięcy · Acyduria 2-metylo-3-hydroksymasłowa, typ klasyczny · Choroba HSD10, typ klasyczny · Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ dziecięcy · Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ klasyczny · Niedobór HSD10, typ dziecięcy · Niedobór HSD10, typ klasyczny · Niedobór MHBD, typ dziecięcy · Niedobór MHBD, typ klasyczny |
| cs | Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, infantilní typ | 2-methyl-3-hydroxymáselná acidurie, klasický typ · 2-methyl-3-hydroxymáselná acidurie, infantilní typ · Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, klasický typ · Deficit 2-methyl-3-hydroxybutyryl-CoA deyhdrogenázy, infantilní typ · HSD10 deficit, klasický typ · HSD10 deficit, infantilní typ · Deficit MHBD, klasický typ · Deficit MHBD, infantilní typ |
| uk | Хвороба HSD10, інфантильний тип | 2-метил-3-гідроксимасляна ацидурія, класичний тип · 2-метил-3-гідроксимасляна ацидурія, інфантильний тип · Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, класичний тип · Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, інфантильний тип · Дефіцит HSD10, класичний тип · Дефіцит HSD10, інфантильний тип · Хвороба HSD10, класичний тип · Дефіцит MHBD, класичний тип · Дефіцит MHBD, інфантильний тип |
| zh | 婴儿型HSD10病 | 婴儿型2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症 |
| tr | HSD10 hastalığı, infantil tip | HSD10 hastalığı, klasik tip · MHBD eksikliği, klasik tip · HSD10 eksikliği, klasik tip · MHBD eksikliği, infantil tip · HSD10 eksikliği, infantil tip · 2-metil-3-hidroksibütirik asidüri, klasik tip · 2-metil-3-hidroksibütirik asidüri, infantil tip · 2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, klasik tip · 2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, infantil tip |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300438 | NTBT | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0018322 | E | validated | |
| UMLS | C5680025 | 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 (1):
- ORPHA:391417HSD10 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD17B10 | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
51 annotations · validated 2020-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003287 | Abnormality of mitochondrial metabolism | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| Frequent (79-30%) | ||
| HP:0500170 | Abnormal concentration of acylcarnitine in the urine | |
| HP:0000618 | Blindness | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0001263 | Global developmental delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0001942 | Metabolic acidosis | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0002180 | Neurodegeneration | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0010936 | Abnormality of the lower urinary tract | |
| HP:0001344 | Absent speech | |
| HP:0001640 | Cardiomegaly | |
| HP:0001266 | Choreoathetosis | |
| HP:0000961 | Cyanosis | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0000365 | Hearing impairment | |
| HP:0001987 | Hyperammonemia | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002505 | Loss of ambulation | |
| HP:0000252 | Microcephaly | |
| HP:0007030 | Nonprogressive encephalopathy | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000749 | Paroxysmal bursts of laughter | |
| HP:0002370 | Poor coordination | |
| HP:0002421 | Poor head control | |
| HP:0000711 | Restlessness | |
| HP:0000546 | Retinal degeneration | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001264 | Spastic diplegia | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0030391 | Spoken Word Recognition Deficit | |
| HP:0000572 | Visual loss | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 11102558[PMID]_26950678[PMID]_16148061[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391428
- This record as JSON: /data/d/391428.json