Document Detail

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
MedLine Citation:
PMID:  8283379     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  124     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-02-14     Completed Date:  1994-02-14     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  79-86     Citation Subset:  AIM; IM    
Department of Pediatrics, University of Padua, Italy.
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MeSH Terms
Acyl-CoA Dehydrogenase
Brain / abnormalities
Chronic Disease
Fatty Acid Desaturases / metabolism
Fatty Acids / metabolism*
Fibroblasts / enzymology,  metabolism
Isoleucine / metabolism
Malonates / urine*
Mental Retardation
Reg. No./Substance:
0/Fatty Acids; 0/Malonates; 601-75-2/ethylmalonic acid; 73-32-5/Isoleucine; EC 1.14.19.-/Fatty Acid Desaturases; EC Dehydrogenase
Comment In:
J Pediatr. 1994 Nov;125(5 Pt 1):843-4   [PMID:  7965445 ]

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