Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:The mild form of menkes disease: a 34 year progress report on the original case. 2343 May 51
