Document Detail

The role of methionine in ethylmalonic encephalopathy with petechiae.
MedLine Citation:
PMID:  15096407     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Among patients with ethylmalonic aciduria, a subgroup with encephalopathy, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or multiple acyl-coenzyme A dehydrogenase deficiency. The nature of the molecular defect in this subgroup is unknown, and the source of the ethylmalonic acid has been unclear. OBJECTIVE: To determine whether the administration of candidate amino acids increased the excretion of ethylmalonic acid. DESIGN: Examination of patterns of organic acids excreted in the urine before and following loading doses of isoleucine and methionine. SETTING: General clinical research center. PATIENT: An infant with ethylmalonic aciduria, global developmental delay, acrocyanosis, and intermittent showers of petechiae. MAIN OUTCOME MEASURE: Excretion of ethylmalonic acid in the urine. RESULTS: Loading with methionine increased the excretion of ethylmalonic acid, whereas loading with isoleucine did not. Restriction of the dietary intake of methionine decreased ethylmalonic acid excretion. CONCLUSION: In ethylmalonic acid encephalopathy with petechiae, methionine is a precursor of ethylmalonic acid.
Karen A McGowan; William L Nyhan; Bruce A Barshop; Robert K Naviaux; Alice Yu; Richard H Haas; Jeannette J Townsend
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of neurology     Volume:  61     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-04-20     Completed Date:  2004-05-04     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  570-4     Citation Subset:  AIM; IM    
Institute of Molecular Genetics and the Department of Pediatrics, University of California San Diego, La Jolla 92093, USA.
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MeSH Terms
Amino Acids / blood
Brain / pathology
Brain Diseases, Metabolic, Inborn / genetics,  pathology,  physiopathology*,  urine
Caudate Nucleus / pathology
Fatal Outcome
Follow-Up Studies
Isoleucine / administration & dosage,  physiology
Malonates / urine*
Methionine / administration & dosage,  physiology*
Purpura / genetics,  pathology,  physiopathology*,  urine
Substantia Nigra / pathology
Grant Support
Reg. No./Substance:
0/Amino Acids; 0/Malonates; 601-75-2/ethylmalonic acid; 63-68-3/Methionine; 73-32-5/Isoleucine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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