Document Detail

Neonatal metabolic myopathies.
MedLine Citation:
PMID:  10331465     Owner:  NLM     Status:  MEDLINE    
The primary presentations of neuromuscular disease in the newborn period are hypotonia and weakness. Although metabolic myopathies are inherited disorders that present from birth and may present with subtle to marked neonatal hypotonia, a number of these defects are diagnosed classically in childhood, adolescence, or adulthood. Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (e.g., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondrial disorders) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps), e.g., phosphorylase, phosphofructokinase, and phosphoglycerate kinase among the glycogenoses and carnitine palmitoyltransferase II deficiency among the disorders of FAO or (3) both (e.g., long-chain or very long-chain acyl coenzyme A (CoA) dehydrogenase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and trifunctional protein deficiencies among the FAO defects). Episodes of exercise-induced myoglobinuria tend to present in later childhood or adolescence; however, myoglobinuria in the first year of life may occur in FAO disorders during catabolic crises precipitated by fasting or infection. The following is a survey of genetic disorders of glycogen and lipid metabolism resulting in myopathy, focusing primarily on those defects, to date, that have presented in the neonatal or early infancy period. Disorders of mitochondrial metabolism are discussed in another chapter.
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Seminars in perinatology     Volume:  23     ISSN:  0146-0005     ISO Abbreviation:  Semin. Perinatol.     Publication Date:  1999 Apr 
Date Detail:
Created Date:  1999-06-25     Completed Date:  1999-06-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7801132     Medline TA:  Semin Perinatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  125-51     Citation Subset:  IM    
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
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MeSH Terms
Fatty Acids / metabolism
Glycogen / metabolism
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*,  genetics
Mitochondrial Myopathies
Muscle, Skeletal / metabolism
Muscular Diseases / diagnosis*,  genetics*
Reg. No./Substance:
0/Fatty Acids; 9005-79-2/Glycogen

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