An 8-week-old male infant diagnosed with bilateral subdural hematoma following a reported fall and head injury was found to have glutaric aciduria type 1 and was subsequently treated by dietary modification at Addenbrooke’s Hospital, Cambridge, UK. Initially suspected to have a nonaccidental injury, the infant had been placed in foster care and the mother prosecuted. The metabolic diagnosis was suspected at 6 months of age when the infant presented with macrocephaly and developmental delay. Urine organic analysis showed elevated excretion of glutaric acid and 3-hydroxyglutaric acid. Glutaryl-CoA dehydrogenase activity was absent in cultured fibroblasts. Despite reduced lysine/tryptophan diet with carnitine supplement, the infant remains globally retarded. [1]
COMMENT. Infants with subdural hematoma and suspected NAI should receive metabolic screening before parental charges are pursued.