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)
A 5-month-old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from
bronchopneumonia
. Autopsy of the brain revealed meningo-cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of
Menkes disease
. A muscle-biopsy, the only remaining tissue from the patient, showed an increased copper-content, thus corroborating the suspicion of
Menkes disease
. Copper-uptake studies on 2 independent repeatedly tested fibroblast-cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of
Menkes disease
. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with
Menkes disease
will unequivocally classify a woman as a carrier irregardless of her genetic risk. This is to our knowledge the first time copper-measurements in tissues have been used to establish a post-mortem diagnosis of
Menkes disease
.
...
PMID:Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease. 369 34
