| The role of methionine in ethylmalonic encephalopathy with petechiae. | |
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MedLine Citation:
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PMID: 15096407 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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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:
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Title: Archives of neurology Volume: 61 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 2004 Apr |
Date Detail:
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Created Date: 2004-04-20 Completed Date: 2004-05-04 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 570-4 Citation Subset: AIM; IM |
Affiliation:
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Institute of Molecular Genetics and the Department of Pediatrics, University of California San Diego, La Jolla 92093, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acids
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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:
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DK07318/DK/NIDDK NIH HHS; M01 RR00827/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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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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