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.
mental retardation (term that has been replaced by intellectual developmental disorder)