3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
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(OMIM:231530)
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Autosomal dominant myoglobinuria
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(Orphanet:99846)
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Autosomal recessive limb-girdle muscular dystrophy type 2D
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(Orphanet:62)
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Becker muscular dystrophy
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(Orphanet:98895)
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Carnitine palmitoyl transferase II deficiency
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(Orphanet:157)
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Duchenne muscular dystrophy
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(Orphanet:98896)
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Genetic recurrent myoglobinuria
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(Orphanet:99845)
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Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
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(Orphanet:284426)
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Glycogen storage disease due to lactate dehydrogenase deficiency
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(Orphanet:2364)
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Glycogen storage disease due to muscle glycogen phosphorylase deficiency
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(Orphanet:368)
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Glycogen storage disease due to phosphoglucomutase deficiency
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(Orphanet:711)
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Glycogen storage disease due to phosphoglycerate mutase deficiency
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(Orphanet:97234)
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Hereditary myopathy with lactic acidosis due to ISCU deficiency
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(Orphanet:43115)
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Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency
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(Orphanet:71212)
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King-Denborough syndrome
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(Orphanet:99741)
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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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(Orphanet:5)
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MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY
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(OMIM:602199)
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MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
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(OMIM:268200)
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Malignant hyperthermia
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(Orphanet:423)
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Mitochondrial trifunctional protein deficiency
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(Orphanet:746)
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Pyruvate dehydrogenase E3 deficiency
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(Orphanet:2394)
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Very long chain acyl-CoA dehydrogenase deficiency
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(Orphanet:26793)
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