Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
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.
Tsai
Anne Chun-Hui
AC
Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA. tsai.chun-hui@tchden.org
Morel
Chantal F
CF
Scharer
Gunter
G
Yang
Michael
M
Lerner-Ellis
Jordan P
JP
Rosenblatt
David S
DS
Thomas
Janet A
JA
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D001523:Mental Disorders / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000235:genetics; D008764:Methylmalonic Acid / Q000652:urine*; D009154:Mutation; D009483:Neuropsychological Tests; D010088:Oxidoreductases; D014805:Vitamin B 12 / Q000378:metabolism
D002352:Carrier Proteins; D008764:Methylmalonic Acid; C508359:MMACHC protein, human; D010088:Oxidoreductases; D014805:Vitamin B 12