Abstract | BACKGROUND: OBJECTIVE: 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: RESULTS: CONCLUSION:
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Authors | Karen A McGowan, William L Nyhan, Bruce A Barshop, Robert K Naviaux, Alice Yu, Richard H Haas, Jeannette J Townsend |
Journal | Archives of neurology
(Arch Neurol)
Vol. 61
Issue 4
Pg. 570-4
(Apr 2004)
ISSN: 0003-9942 [Print] United States |
PMID | 15096407
(Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Amino Acids
- Malonates
- Isoleucine
- ethylmalonic acid
- Methionine
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Topics |
- 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
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