clinical features

Last reviewed 01/2018

Patients are normal at birth but during early boyhood develop:

• choreo-athetoid movements
• scissoring position of legs
• orange crystals may be found in the nappy
• self-mutilation e.g. foot biting, head banging
• reduced IQ (e.g. less than 65)
• hypotonia, weakness and fits

Other features including megoblastic anaemia, gout and renal colic may occur.