title: Systemic infantile complex I deficiency with fatal outcome in two brothers.
abstract: A male infant presented at 5 months of age with vomiting, developmental stagnation and convulsions. Complex I activity was in skeletal muscle 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 neurological deterioration occurred and he died at 14 months of age. During the mother's following pregnancy complex I activity was measured in chorionic villi and found mildly reduced, pregnancy was continued. A male infant was born who presented at 7 months of age with vomiting, developmental stagnation and hypotonia. Complex I activity was in skeletal muscle 0.031 mU/mU CS and in fibroblasts 0.100 mU/mU CS. There was progressive neurological deterioration and he died at 17 months of age. Complex I activity in autopsy liver of both patients was normal. Apparently, complex I deficiency presenting in infancy can have a fatal outcome despite only mild reduction of enzyme activity in skeletal muscle and/or fibroblasts, and chorionic villi and normal activity in liver.
authors.affiliation: Department of Metabolic Diseases, University Children's Hospital Nijmegen, The Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: D002824:Chorionic Villi / Q000201:enzymology; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology*; D018482:Muscle, Skeletal / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency*; D009679:Nuclear Family; D012720:Severity of Illness Index; D012867:Skin / Q000201:enzymology
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone)