Cystathioninuria in a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests.
This article describes a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests with a secondary cystathioninuria. The cystathioninuria could be corrected with vitamin B6 supplementation.
Hestnes
A
A
Hallsetheimen Home for the Mentally Retarded, Klaebu, Norway.
Borud
O
O
Lunde
H
H
Gjessing
L R
LR
D003540:Cystathionine / Q000652:urine*; D003638:Deafness / Q000150:complications; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008111:Liver Function Tests; D008875:Middle Aged; D011736:Pyridoxine / Q000627:therapeutic use; D011782:Quadriplegia / Q000150:complications
D003540:Cystathionine; D011736:Pyridoxine