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

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

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

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
Volume143
Issue number20
DOIs
StatePublished - Oct 15 2007
Externally publishedYes

Fingerprint

Homocystinuria
Unilateral Hearing Loss
Malingering
Joint Instability
Failure to Thrive
Mutation
Hemiplegia
Paresthesia
Spinal Cord Diseases
Diagnostic Errors
Gait
Hispanic Americans
Urinary Tract Infections
Intellectual Disability
Cataract
Arthritis
Psychiatry
Anemia
Lower Extremity
Epilepsy

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Tsai, A., Morel, C. F., Scharer, G., Yang, M., Lerner-Ellis, J. P., Rosenblatt, D. S., & Thomas, J. A. (2007). Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. American Journal of Medical Genetics, Part A, 143(20), 2430-2434. https://doi.org/10.1002/ajmg.a.31932

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. / Tsai, Anne; Morel, Chantal F.; Scharer, Gunter; Yang, Michael; Lerner-Ellis, Jordan P.; Rosenblatt, David S.; Thomas, Janet A.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 20, 15.10.2007, p. 2430-2434.

Research output: Contribution to journalArticle

Tsai, A, Morel, CF, Scharer, G, Yang, M, Lerner-Ellis, JP, Rosenblatt, DS & Thomas, JA 2007, 'Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance', American Journal of Medical Genetics, Part A, vol. 143, no. 20, pp. 2430-2434. https://doi.org/10.1002/ajmg.a.31932
Tsai, Anne ; Morel, Chantal F. ; Scharer, Gunter ; Yang, Michael ; Lerner-Ellis, Jordan P. ; Rosenblatt, David S. ; Thomas, Janet A. / Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. In: American Journal of Medical Genetics, Part A. 2007 ; Vol. 143, No. 20. pp. 2430-2434.
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