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    
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.
E A Haan; R D Scholem; H B Croll; G K Brown
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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    
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MeSH Terms
Acidosis / urine
Acids / urine
Carboxy-Lyases / deficiency*
Dietary Carbohydrates / administration & dosage
Dietary Fats / administration & dosage
Mental Retardation / enzymology,  metabolism
Reg. No./Substance:
0/Acids; 0/Dietary Carbohydrates; 0/Dietary Fats; EC 4.1.1.-/Carboxy-Lyases; EC decarboxylase

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