Document Detail


The role of methionine in ethylmalonic encephalopathy with petechiae.
MedLine Citation:
PMID:  15096407     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Karen A McGowan; William L Nyhan; Bruce A Barshop; Robert K Naviaux; Alice Yu; Richard H Haas; Jeannette J Townsend
Related Documents :
6834247 - Antacid effects on the gastrointestinal absorption of riboflavin.
24379787 - Lipid peroxidation: pathophysiological and pharmacological implications in the eye.
3726497 - Correlation of xylene exposure and methyl hippuric acid excretion in urine among paint ...
9155507 - Excretion of benzoic acid derivatives in urine of sheep given intraruminal infusions of...
11346197 - Bile-induced adenosine triphosphate depletion and mucosal damage during reflux esophagi...
16054557 - A review of recent studies on malondialdehyde as toxic molecule and biological marker o...
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    
Affiliation:
Institute of Molecular Genetics and the Department of Pediatrics, University of California San Diego, La Jolla 92093, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Amino Acids / blood
Brain / pathology
Brain Diseases, Metabolic, Inborn / genetics,  pathology,  physiopathology*,  urine
Caudate Nucleus / pathology
Fatal Outcome
Female
Follow-Up Studies
Humans
Infant
Isoleucine / administration & dosage,  physiology
Male
Malonates / urine*
Methionine / administration & dosage,  physiology*
Pedigree
Purpura / genetics,  pathology,  physiopathology*,  urine
Substantia Nigra / pathology
Syndrome
Grant Support
ID/Acronym/Agency:
DK07318/DK/NIDDK NIH HHS; M01 RR00827/RR/NCRR NIH HHS
Chemical
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


Previous Document:  A controlled, randomized, delayed-start study of rasagiline in early Parkinson disease.
Next Document:  Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with s...