Classical
Menkes disease is a
neurodegenerative disorder caused by mutations in the
copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of
Menkes disease was originally reported in 1981 and clinical progress of the patient
at 10 years described subsequently. The causative mutation is c.4085C>T in exon 21, causing an
alanine to
valine substitution in the highly conserved TM7 domain at the C-terminal end of the Menkes
protein. Here we report his status at 34 years of age. Intellectual impairment is mild.
Ataxia has nearly resolved but motor retardation,
dysarthria and an extreme slow speech rate remain. In contrast to patients with the
occipital horn syndrome, there have been no connective tissue complications of his mild
Menkes disease. He has been under long-term
copper therapy for more than 30 years and he continues to enjoy a good quality of life.