Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.
case_report · Level V
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- Record sourced from PubMed, PMID 1564483.
- Also identified by PMC identifier 1014728.
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Abstract
A 29 year old woman is described with severe hyperemesis gravidarum, atypical migraine, numerous admissions to hospital for psychiatric illness, non-epileptic seizures, and valproate-induced coma. Metabolic studies and measurement of [9,10(n)-3H]palmitate oxidation by cultured fibroblasts suggested a multiple acyl-CoA dehydrogenation disorder. Treatment with riboflavin abolished headaches and abnormal behaviour and normalised the plasma free carnitine level. Subtle defects in mitochondrial beta oxidation may be a treatable cause of disordered behaviour in adults.
Medical subject headings
- Coma
- Epilepsy, Complex Partial
- Fatty Acid Desaturases
- Flavoproteins
- Iron-Sulfur Proteins
- Mitochondria
- Multienzyme Complexes
- Neuropsychological Tests
- Oxidoreductases Acting on CH-NH Group Donors
- Riboflavin
- Valproic Acid