Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
Hoffmann
G F
GF
Department of Child Neurology, University of Göttingen, FRG.
Hunneman
D H
DH
Jakobs
C
C
Wilichowski
E
E
Eber
S W
SW
Hanefeld
F
F
Rating
D
D
Reichmann
H
H
D002331:Carnitine / Q000172:deficiency*; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000032:analysis; D044943:Fatty Acid Desaturases / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008314:Malonates / Q000097:blood / Q000378:metabolism* / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism; D009132:Muscles / Q000378:metabolism*; D009245:NADH Dehydrogenase / Q000172:deficiency; D010198:Pancytopenia / Q000209:etiology*; D011596:Psychomotor Disorders / Q000209:etiology*
D004272:DNA, Mitochondrial; D008314:Malonates; C038080:ethylmalonic acid; D044943:Fatty Acid Desaturases; D009245:NADH Dehydrogenase; D002331:Carnitine