GTR Home > Conditions/Phenotypes > 2-methyl-3-hydroxybutyric aciduria

Summary

17ß-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency is a disorder that affects many parts of the body. This condition is typically more severe in males than in females. Males with HSD10 deficiency have normal early development but soon begin to lose skills they have acquired. This developmental regression typically occurs before age 5 and results in intellectual disability and loss of motor skills such as sitting, standing, and walking. Affected males frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and movement problems. Progressive vision and hearing loss is also common in males with HSD10 deficiency. Females with HSD10 deficiency may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some females may have additional features of this condition, such as epilepsy, movement problems, and hearing loss. [from GHR]

Available tests

33 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: RP3-339A18.2, 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1, HSD17B10
    Summary: hydroxysteroid (17-beta) dehydrogenase 10

Clinical features

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  • Choreoathetosis
  • Intellectual disability
  • Progressive neurologic deterioration
  • Lactic acidosis
  • Seizure
  • Nystagmus
  • Sensorineural hearing impairment
  • Retinal degeneration
  • Restlessness
  • Delayed speech and language development
  • Muscular hypotonia
  • Global developmental delay
  • Metabolic acidosis
  • Hypoglycemia
  • Developmental regression
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