3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance.
Department of Internal Medicine, University Hospital, Heidelberg, Germany.
M H
MH
Holtmann
P R
PR
Galle
W
W
Stremmel
E
E
Mayatepek
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D000748:Anemia, Macrocytic / Q000150:complications*; D005221:Fatigue / Q000150:complications*; D005260:Female; D005334:Fever / Q000150:complications*; D005977:Glutarates / Q000652:urine*; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D007239:Infections / Q000150:complications*; D008206:Lymphatic Diseases / Q000150:complications*; D009333:Neck; D013163:Splenomegaly / Q000150:complications
D005977:Glutarates; C022034:3-methylglutaconic acid