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Methylmalonic acidemia with homocystinuria, type cblC

Orpha number ORPHA79282
Synonym(s) Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
Prevalence Unknown
Inheritance
  • X-linked recessive
  • Autosomal recessive
Age of onset Variable
ICD-10
  • E72.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

To date, over 500 cases of cblC have been reported, making it the most frequent type of methylmalonic acidemia with homocystinuria.

The disease typically presents with failure to thrive, acute neurological deterioration, intellectual deficit, lethargy, seizures, microcephaly, a salt-and-pepper retinopathy, and signs of megaloblastic anemia (pallor, fatigue, anorexia). Severe brain abnormalities including hydrocephalus, white matter abnormalities, cerebral atrophy, and unusual basal ganglia lesions are common. Onset of the disorder can be early (infantile) or late (juvenile or adult), with the late-onset form characterized by ataxia, dementia and psychosis.

cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.

Expert reviewer(s)

  • Dr David ROSENBLATT
  • Dr David WATKINS

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Detailed information

Clinical genetics review
  • EN (2013)
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