Document Detail

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
MedLine Citation:
PMID:  9308979     Owner:  NLM     Status:  MEDLINE    
We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.
M L Skyllouriotis; M Marx; R E Bittner; P Skyllouriotis; M Gross; M Wimmer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  17     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1997 Jul 
Date Detail:
Created Date:  1997-11-13     Completed Date:  1997-11-13     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  61-6     Citation Subset:  IM    
Department of Pediatric Cardiology, University of Vienna, Austria.
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MeSH Terms
AMP Deaminase / deficiency*
Adenosine Diphosphate / metabolism
Adenosine Triphosphate / metabolism
Cardiomyopathy, Hypertrophic / drug therapy,  enzymology,  genetics*
Carnitine / administration & dosage,  deficiency
Diagnosis, Differential
Gigantism / enzymology,  genetics*
Inosine Monophosphate / metabolism
Muscle, Skeletal / pathology
Purine-Pyrimidine Metabolism, Inborn Errors / drug therapy,  enzymology,  genetics*
Reg. No./Substance:
131-99-7/Inosine Monophosphate; 541-15-1/Carnitine; 56-65-5/Adenosine Triphosphate; 58-64-0/Adenosine Diphosphate; EC Deaminase

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