METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME

Deficiency of methylenetetrahydrofolate. reductase (MTHFR) is associat ed with a variable phenotype that includes mental retardation, gait ab normalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who was initially diagnosed as having Angelman syndro me. This case illustrates that MTHFR deficiency can mimic the phenotyp e of Angelman syndrome and that MTHFR deficiency should be excluded in patients with manifestations of Angelman syndrome whose molecular stu dies of chromosome 15 are normal. (C) 1998 Wiley-Liss, Inc.