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)

We report a boy with Menkes' disease in whom MRI revealed delayed myelination of the white matter, brain atrophy and tortuosity of the intracranial vessels. The characteristic MRI features of Menkes' disease were accompanied by a Dandy-Walker variant.
 ...
PMID:Menkes' disease with a Dandy-Walker variant: case report. 1176 Jul 99

We report on metabolic changes in the brain of a boy with Menkes disease. He was treated with parenteral copper (Cu)-histidine supplementation, from 5 months of age, and assessed with proton magnetic resonance spectroscopy ((1)H-MRS). The single-voxel (1)H-MRS before treatment revealed an accumulation of lactate and a reduced N-acetyl aspartate (NAA)/total creatine (tCr) ratio with a z-score of -3.0. During treatment, the lactate signal faded away, whereas the NAA signal gradually increased to a z-score of -1.5 at 120 days of treatment. The choline/tCr ratio did not deviate much initially (z-score +0.5), but the ratio increased markedly during treatment (z-score +4.8). Consequently, the Cu-histidine therapy initiated after the critical period still improved the neuronal metabolism, suggesting that some Cu was delivered to neurons. Nevertheless, the brain atrophy, impaired myelination, and severe neurological symptoms were not ameliorated.
 ...
PMID:The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. 1586 94

Menkes syndrome is caused by mutation of ATP7A gene that encode copper-binding membrane protein localized to the trans-Golgi membrane. Mutation of this gene causes defective exportation of copper from the cell. Intracellular accumulation of copper does not reach the toxic state, as copper entering the body is trapped in the intestinal epithelium. Copper requiring enzymes are dysfunction and cause multisystemic manifestations. The authors report a Thai boy 8 months of age who had depigmentation and kinky hair at birth. He developed myoclonic jerk at 3 months of age. He had hypopigmentation of the skin, delayed development, hypotonia, pectus excurvatum, loose skin and joints. He had anemia, very low serum copper and ceruloplasmin. X-ray showed Wormian bone of skull, osteopenia of long bones and generalized brain atrophy. The presented case has similar clinical and laboratory findings to 2 previous reports by Songkla University and Siriraj Hospital. Treatment is not effective due to unavailability of copper- histidinate and the patient already had severe brain damage. Genetic counseling is important to prevent the next offspring. Biochemical and molecular diagnosis are available for confirmation and prenatal diagnosis, but these techniques have limitations in Thailand.
 ...
PMID:Menkes syndrome: a case report. 1685 71

The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia. There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 microg/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels. There was poor therapeutic response to symptomatic treatment.
 ...
PMID:Menkes syndrome presenting as myoclonic seizures: neuroimaging and EEG observations. 1762 28

Menkes disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7A gene. Its clinical course is characterized by early neurological regression, seizures, hypotonia and kinky friable hair. Neuroimaging typically reveals severe brain atrophy with subdural fluid collections and excessive tortuosity of cerebral arteries. The authors describe a case of Menkes disease with unusual imaging findings. The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas, reminiscent of megalencephalic leukodystrophy.
 ...
PMID:Macrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease. 2270 Mar 86

Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting (pili torti), cerebrovascular tortuosity, and bladder diverticulae. Menkes disease phenotypes have been reported in females with X; autosome translocations-disrupting ATP7A gene function- or ATP7A gene alterations. Those females manifest variable clinical findings, some of which, such as pili torti, seizure presence and/or age of onset, cerebrovascular tortuosity, degree of intellectual disability, and bladder divericulae are largely under-reported and under-studied. Here, we report on three females with Menkes disease and variant phenotypes, sharing characteristic features, one with classic Menkes disease and two with Menkes disease variants. We conclude that Menkes disease in females manifests with a variable spectrum of clinical findings but a few are uniformly present such as neurodevelopmental disability, hypotonia, and connective tissue findings. Others, such as seizures, cerebral atrophy, and cerebrovascular tortuosity may be present but are under-reported and under- studied. We propose that the diagnosis of Menkes disease or variants in females with suspicious clinical findings is an important one to consider as early treatment with parenteral copper may be considered. The effect of this treatment on the disease course in females with MD is unknown and remains to be seen.
 ...
PMID:Menkes disease in affected females: the clinical disease spectrum. 2542 20


<< Previous 1 2