Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
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.
Skyllouriotis
M L
ML
Department of Pediatric Cardiology, University of Vienna, Austria.
Marx
M
M
Bittner
R E
RE
Skyllouriotis
P
P
Gross
M
M
Wimmer
M
M
D000659:AMP Deaminase / Q000172:deficiency*; D000244:Adenosine Diphosphate / Q000378:metabolism; D000255:Adenosine Triphosphate / Q000378:metabolism; D000328:Adult; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency; D003937:Diagnosis, Differential; D005877:Gigantism / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007291:Inosine Monophosphate / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*
D007291:Inosine Monophosphate; D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate; D000659:AMP Deaminase; D002331:Carnitine