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

Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes's syndrome may be a storage disease in which copper is irreversibly trapped in some tissues by metallothionein, a heavy-metal-binding protein. This then gives rise to a deficiency elsewhere, particularly in the brain, causing irreversible damage in the fetus. We present a patient with Menkes's syndrome and review the clinical and metabolic aspects of this disease.
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PMID:Menkes's syndrome. 649 70

Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and ceruloplasmin in the serum confirm the diagnosis. This rare disorder is caused by an inborn error of copper metabolism whose nature is not yet clear. Recent hypotheses favour either an abnormality in the transport of copper across the cell membrane or increased affinity for copper of the intracellular binding protein. Because the metabolic abnormality is expressed autonomously and irregularly in various tissues, the distribution of copper within the body is disordered. Up to now none of the many forms of copper therapy has succeeded in modifying the fatal course of the disease in humans. This article presents a new case, the first in Canada, and a review of the other 69 cases described in the literature. The new case illustrates, in addition to the classic picture, less well known features, such as diverticula of the bladder mucosa and serosa, as well as cortical atrophy and malformed cerebral vessels demonstrated by computer-assisted tomography.
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PMID:[Trichopoliodystrophy or Menkes disease]. 700 75

Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia. These symptoms have been attributed to suppression of copper-dependent enzymes resulting from copper deficiency. We report a case of a 7-month-old infant with Menkes disease who underwent repair of inguinal hernia. Anesthesia was maintained with sevoflurane-N2O-O2, and the operation was carried out uneventfully. Although the patient had been medicated with anticonvulsants preoperatively, transient seizure occurred in the recovery room. We also discuss pathophysiology and anesthetic management of a patient with Menkes disease.
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PMID:[Anesthetic management of an infant with Menkes disease]. 823 Jul 25

We report a 19-month-old boy with Menkes' syndrome that was complicated by a progressive sliding hiatal hernia. He presented with convulsions, developmental delay, elongation and tortuosity of major cerebral arteries, and diverticulae of the bladder at 4 months of age. Based on the diagnosis of Menkes' syndrome, treatment with intravenous or subcutaneous copper-histidine administration was initiated at 6 months of age. At 13 months of age, he vomited frequently owing to sliding hiatal hernia, which progressed rapidly and required surgical treatment. Connective tissue abnormalities are characteristic complications of Menkes' syndrome. Sliding hiatal hernia is probably one of the connective tissue manifestations and should be carefully evaluated in patients with Menkes' syndrome demonstrating recurrent gastrointestinal and/or respiratory symptoms.
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PMID:Progressive sliding hiatal hernia as a complication of Menkes' syndrome. 1215 May 94

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.
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PMID:Menkes kinky hair disease: A case report. 1880 Nov 84

Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson's disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease. As this overview shows, Wilson's disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS.
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PMID:Classification and differential diagnosis of Wilson's disease. 3117