Methioninemia and myopathy: a new disorder.
A 7 1/2-year-old girl with hypermethioninemia, myopathy, and mental deficiency (IQ = 65) is described. The increased methionine was not associated with deficiency of methionine adenosyltransferase, which was normal or increased in liver, muscle, erythrocytes, and cultured fibroblasts. Methionyl-tRNA synthetase in fibroblasts was normal. The hypermethioninemia and a concurrently increased blood S-adenosylmethionine declined on a diet low in methionine. There was a diffuse, symmetrical, moderate proximal muscle weakness, but muscle atrophy was not discernible, and the deep tendon reflexes were hypoactive but obtainable. Electromyographic abnormalities were not detected. Electron microscopy of muscle revealed 3 to 6 small myelin figures in the region of the I band in nearly every fiber, with occasional myelin figures at other sites also. These myelin figures were more numerous and smaller than those seen accompanying nonspecific myopathies and may reflect a more specific pathological change. Electron microscopy of liver revealed three nonspecific lesions in all hepatocytes: (1) numerous megamitochondria with crystalloid deposit in the matrix; (2) increased numbers of small vesicles of smooth endoplasmic reticulum; and (3) loss of plasma membrane microvilli, with extensive bleb formation and shedding of cytoplasm into Disse's space.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008099:Liver / Q000473:pathology; D008715:Methionine / Q000097:blood*; D008716:Methionine Adenosyltransferase / Q000378:metabolism; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis*; D013577:Syndrome
D008715:Methionine; D008716:Methionine Adenosyltransferase