Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.
Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.
Hansen
L K
LK
Department of Paediatrics, Odense University Hospital, Denmark.
Wulff
K
K
Dorche
C
C
Christensen
E
E
D003067:Coenzymes / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011621:Pteridines / Q000378:metabolism*; D013654:Taurine / Q000652:urine
D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D013654:Taurine; C022261:molybdopterin