Document Detail


Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect.
MedLine Citation:
PMID:  3709568     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A second child with a more severe deficiency of malonyl CoA decarboxylase is described. He is mildly mentally retarded and presented with vomiting, a seizure, hypoglycaemia and mild metabolic acidosis during a urinary tract infection. The urine contained increased amounts of malonic, methylmalonic, succinic, adipic, glutaric and suberic acids. Mitochondrial malonyl CoA decarboxylase activity in cultured fibroblast extracts was 4% of the mean control value. A high fat, low carbohydrate diet led to symptomatic hypoglycaemia, a moderate metabolic acidosis and excretion in the urine of large amounts of the same organic acids and 3-hydroxybutyrate. Only relatively small quantities of malonic, methylmalonic and succinic acid were excreted in the urine when the boy was fed an isocaloric low fat, high carbohydrate diet. Acute fat and lysine loads led to increased excretion of malonic acid in the urine without affecting the excretion of the other organic acids. Experience with this patient suggests that malonyl CoA decarboxylase serves an important function in the mitochondrion by preventing accumulation of malonyl CoA. The importance of the enzyme is best seen when fat is the main metabolic fuel. The mechanisms by which malonyl CoA produces its complex metabolic effects remain to be elucidated.
Authors:
E A Haan; R D Scholem; H B Croll; G K Brown
Related Documents :
7144448 - Riboflavin deficiency and beta-oxidation systems in rat liver.
16657038 - Biosynthesis of fatty acids by a soluble extract from developing soybean cotyledons.
16638618 - Kinetic characterization of the inhibition of acyl coenzyme a: steroid acyltransferases...
12682048 - Arabidopsis mutants in short- and medium-chain acyl-coa oxidase activities accumulate a...
986358 - Multiple forms of human acrosin: isolation and properties.
10960188 - Non-thiol farnesyltransferase inhibitors: the concept of benzophenone-based bisubstrate...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  144     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1986 Apr 
Date Detail:
Created Date:  1986-07-18     Completed Date:  1986-07-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  567-70     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Acidosis / urine
Acids / urine
Carboxy-Lyases / deficiency*
Dietary Carbohydrates / administration & dosage
Dietary Fats / administration & dosage
Humans
Infant
Male
Mental Retardation / enzymology,  metabolism
Chemical
Reg. No./Substance:
0/Acids; 0/Dietary Carbohydrates; 0/Dietary Fats; EC 4.1.1.-/Carboxy-Lyases; EC 4.1.1.9/malonyl-CoA decarboxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Rett syndrome revisited: a patient with biotin dependency.
Next Document:  Increased manganese content and reduced arginase activity in erythrocytes of a patient with prolidas...