SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS

A male infant presented at 5 months of age with vomiting, developmenta l stagnation and convulsions. Complex I activity was in skeletal muscl e 0.025 mU/mU CS (N 0.044-0.265) and in fibroblasts 0.046 mU/mU CS (N 0.100-0.307). Despite riboflavine supplementation progressive neurolog ical deterioration occurred and he died at 14 months of age. During th e mother's following pregnancy complex I activity was measured in chor ionic villi and found mildly reduced, pregnancy was continued. A male infant was born who presented at 7 months of age with vomiting, develo pmental stagnation and hypotonia. Complex I activity was in skeletal m uscle 0.031 mU/mU CS and in fibroblasts 0.100 mU/mU CS. There was prog ressive neurological deterioration and he died at 17 months of age. Co mplex I activity in autopsy liver of both patients was normal. Apparen tly, complex I deficiency presenting in infancy can have a fatal outco me despite only mild reduction of enzyme activity in skeletal muscle a nd/or fibroblasts, and chorionic villi and normal activity in liver.