2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency

Hydroxysteroid (17) dehydrogenase 10 (HSD10) deficiency (formerly called 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency) is a very rare disorder with very few patients described caused by mutations in the HSD17B10 gene located on the X chromosome. Most patients develop severe neurological abnormalities, such as the gradual loss of mental and motor skills that progresses to profound developmental regression, choreoathetosis, near blindness and epilepsy. Cardiomyopathy has also been described. Males are more severely affected than females, with females presenting a variety of symptoms: from borderline learning difficulties to psychomotor and speech delay. Mutation in the HSD17B10 gene has also been associated with a mild X-linked mental retardation syndrome with choreoathetosis and abnormal behavior, involving aggressiveness, hallucinations, self mutilation and speech impairment called MRXS10. (MIM# 300220).

Tests Available

Forms and Documents

Test Details

HSD17B10
  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

463
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
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References

  1. Lenski et al., (2007) Am J Hum Genet 80:372-377
  2. Garcia-Villoria et al., (2009) Clin Biochem 42:27-33
  3. Ofman et al., (2003) Am J hum Genet 72:1300-1307.
  4. Yang et al., (2007) Mol Genet Metab 92:36-42.
  5. Rauschenberger et al., (2010) EMBO Mol Med 2:51-62