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Late‐onset combined homocystinuria and methylmalonic aciduria ( cblC ) and neuropsychiatric disturbance
Author(s) -
Tsai Anne ChunHui,
Morel Chantal F.,
Scharer Gunter,
Yang Michael,
LernerEllis Jordan P.,
Rosenblatt David S.,
Thomas Janet A.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31932
Subject(s) - homocystinuria , methylmalonic aciduria , medicine , malingering , pediatrics , hyperintensity , psychiatry , methylmalonic acid , homocysteine , biochemistry , chemistry , amino acid , radiology , methionine , magnetic resonance imaging
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. © 2007 Wiley‐Liss, Inc.