Document Detail

Systemic infantile complex I deficiency with fatal outcome in two brothers.
MedLine Citation:
PMID:  9553949     Owner:  NLM     Status:  MEDLINE    
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.
M E Rubio-Gozalbo; W Ruitenbeek; U Wendel; R C Sengers; J M Trijbels; J A Smeitink
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  29     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  1998 Feb 
Date Detail:
Created Date:  1998-07-14     Completed Date:  1998-07-14     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  43-5     Citation Subset:  IM    
Department of Metabolic Diseases, University Children's Hospital Nijmegen, The Netherlands.
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MeSH Terms
Chorionic Villi / enzymology
Fatal Outcome
Fibroblasts / enzymology
Mitochondrial Encephalomyopathies / enzymology*
Muscle, Skeletal / enzymology
NAD(P)H Dehydrogenase (Quinone) / deficiency*
Nuclear Family
Severity of Illness Index
Skin / enzymology
Reg. No./Substance:
EC Dehydrogenase (Quinone)

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