| A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. | |
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MedLine Citation:
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PMID: 8283379 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe four Italian male infants with a novel clinical phenotype characterized by orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, progressive pyramidal signs, mental retardation, and brain magnetic resonance imaging abnormalities. The first symptoms appeared after the termination of breast-feeding and introduction of formula feeding. Marked persistent 2-ethylmalonic aciduria was associated with abnormal excretion of C4-C5(n-butyryl-, isobutyryl-, isovaleryl-, and 2-methylbutyryl-)acylglycines and acylcarnitines and with intermittent lactic acidosis. Short- and branched-chain plasma acylcarnitine levels were also elevated. 2-Ethylmalonic aciduria is generally regarded as being indicative of a defect in fatty acid oxidation. Extensive studies of cultured fibroblasts failed to reveal such a defect. The observation of intermittent urinary excretion of 2-ethylhydracrylic acid pointed to involvement of the isoleucine R pathway in ethylmalonate biosynthesis. This hypothesis was tentatively corroborated by the biochemical responses to an oral isoleucine challenge in two patients. However, fibroblast studies showed normal oxidation rates of (14C)isoleucine (ul), indicating that this is not a defect of isoleucine oxidation expressed in skin fibroblasts. In one of two patients tested, cytochrome c oxidase activity was partially reduced (45%) in cultured fibroblasts. This unique clinical and biochemical phenotype identifies a new metabolic encephalopathy of yet undetermined cause. |
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Authors:
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A B Burlina; C Dionisi-Vici; M J Bennett; K M Gibson; S Servidei; E Bertini; D E Hale; E Schmidt-Sommerfeld; G Sabetta; F Zacchello |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of pediatrics Volume: 124 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1994 Jan |
Date Detail:
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Created Date: 1994-02-14 Completed Date: 1994-02-14 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 79-86 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, University of Padua, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase Brain / abnormalities Chronic Disease Cyanosis* Diarrhea* Fatty Acid Desaturases / metabolism Fatty Acids / metabolism* Fibroblasts / enzymology, metabolism Humans Infant Isoleucine / metabolism Male Malonates / urine* Mental Retardation Oxidation-Reduction Paralysis Purpura* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Fatty Acids; 0/Malonates; 601-75-2/ethylmalonic acid; 73-32-5/Isoleucine; EC 1.14.19.-/Fatty Acid Desaturases; EC 1.3.99.3/Acyl-CoA Dehydrogenase |
| Comments/Corrections | |
Comment In:
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J Pediatr. 1994 Nov;125(5 Pt 1):843-4
[PMID:
7965445
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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