Document Detail

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
MedLine Citation:
PMID:  17853453     Owner:  NLM     Status:  MEDLINE    
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.
Anne Chun-Hui Tsai; Chantal F Morel; Gunter Scharer; Michael Yang; Jordan P Lerner-Ellis; David S Rosenblatt; Janet A Thomas
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-01     Completed Date:  2007-12-06     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2430-4     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2007 Wiley-Liss, Inc.
Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.
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MeSH Terms
Carrier Proteins / genetics
Homocystinuria / diagnosis*,  metabolism
Mental Disorders / diagnosis*
Metabolism, Inborn Errors / genetics
Methylmalonic Acid / urine*
Neuropsychological Tests
Vitamin B 12 / metabolism
Reg. No./Substance:
0/Carrier Proteins; 0/MMACHC protein, human; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12

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