Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

Anne Chun Hui Tsai, Chantal F. Morel, Gunter Scharer, Michael Yang, Jordan P. Lerner-Ellis, David S. Rosenblatt, Janet A. Thomas

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed.

Original languageEnglish (US)
Pages (from-to)2430-2434
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number20
StatePublished - Oct 15 2007


  • Cobalamin C
  • Homocystinuria
  • Methylmalonic aciduria
  • Myelopathy
  • Neuropsychiatric disease
  • Thrombosis
  • Vitamin B
  • cblC

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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