Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describes a case of Menkes' disease, sex-linked recessive hereditary disease characterized by early progressive psychomotor deterioration, failure to gain weight, seizures, hypothermie and characteristic Kinky hair (Pilitorti). This boy is a blind child, unable to fix and follow light. Fundus examination shows optic nerve atrophy with tortuosity of the retinal blood vessels. The case is discussed in the light of similar and others reports in the literature. The disease is believed to be cause by a generalized copper deficiency in the body by defect in copper intestinal absorbtion. The pathologic changes in the retina are similar to those seen in the brain which shows diffuse neuronal degeneration lose of nerve filers and optic atrophy. Retinal changes should be reversible by short term systemic copper administration.
 ...
PMID:[Menkes' disease: apropos of a recent case]. 15 8

Light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.
 ...
PMID:Menkes' kinky hair disease: a light and electron microscopic study of the eye. 124 86

A pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. Optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age. In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers. These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.
 ...
PMID:Menkes' kinky hair disease: clinical and experimental study. 404 23