Revising the Psychiatric Phenotype of Homocystinuria.
Mohammed A AlmuqbilSusan E WaisbrenHarvey L LevyJonathan D PickerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The results support the possible role of homocysteine as a risk factor for psychological and psychiatric problems and cognitive deficits and suggest that earlier diagnosis and treatment may reduce risk of their occurrences. Although early treatment clearly prevented serious medical complications, psychological and psychiatric symptoms were not associated with medical complications, highlighting the need for continued investigation.