Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Fleury
M
M
Barbier
R
R
Ziegler
F
F
Mohr
M
M
Caron
O
O
Dollfus
H
H
Tranchant
C
C
Warter
J M
JM
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D001120:Arginine; D018753:Diet, Protein-Restricted; D015799:Gyrate Atrophy / Q000209:etiology*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology*; D009952:Ornithine / Q000378:metabolism*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D001120:Arginine; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase; D011736:Pyridoxine