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HSD10 disease, infantile type

MedGen UID:
1843150
Concept ID:
C5680025
Disease or Syndrome
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
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Monarch Initiative: MONDO:0018322
Orphanet: ORPHA391428

Definition

HSD10 disease, infantile type is 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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHSD10 disease, infantile type

Recent clinical studies

Diagnosis

Zschocke J
J Inherit Metab Dis 2012 Jan;35(1):81-9. Epub 2011 Nov 30 doi: 10.1007/s10545-011-9415-4. PMID: 22127393

Prognosis

Zschocke J
J Inherit Metab Dis 2012 Jan;35(1):81-9. Epub 2011 Nov 30 doi: 10.1007/s10545-011-9415-4. PMID: 22127393

Supplemental Content

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