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 disease is an X-linked recessive disease with an unknown disturbance in the copper-metabolism. We have been diagnosing patients for the last 15 years. Until 1978, six Danish families with Menkes disease were detected. Since 1978 we have only diagnosed one additional patient and one affected fetus in one of the already known families. As the incidence should be about 1 in 45,000 liveborn males, three additional patients should have been seen since 1978. To increase the chances of diagnosing all Danish Menkes patients the clinical symptoms are described. Until now, we have diagnosed 115 Menkes patients and have been in contact with more than 209 Menkes families from many different countries. If we compare the number of inhabitants per Menkes family in different countries, we obtain the following figures, 0.86 x 10(6) inhabitants per Menkes family in Denmark, increasing to 5.21 x 10(6) inhabitants per Menkes family in Italy. Finally some recent experience with copper therapy for treatment of Menkes patients is described.
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PMID:[Has Menckes' disease disappeared? Clinical picture and postnatal diagnosis]. 258 91

Cerebral blood flow and oxygen metabolism were measured in a five-year-old boy with atypical Menkes kinky hair disease (MKHD) by using positron emission tomography (PET). The patient was diagnosed as having atypical MKHD because of low serum and urinary copper levels, and clinical symptoms. The CT revealed mild to moderate degrees of brain atrophy predominantly in the cerebellum. The PET demonstrated marked decreases of cerebral blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus. These findings seem to reflect the neuropathological abnormalities observed in MKHD. PET seems to be more sensitive than CT in detecting abnormalities in the affected structures. However, because this case is atypical the question of whether typical cases show similar features on the PET remains.
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PMID:Decreased blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus in a case with Menkes kinky hair disease. 261 67

The authors describe two new cases of Menkes' syndrome, both of which belong to the same family. Clinically, one of them began with a convulsive encephalopathy and the most significant features observed in the other were psychomotor delay and changes in the hair. In both cases, the quantity of copper and ceruloplasmin was very low. A description is given of the clinical, electroencephalographic and radiological findings and a microscopic study of the hair. One of them died at the age of 16 months and the other is at present 2 5/12 years old and demonstrates a serious psychomotor delay. Given the inefficiency of the treatment, genetic counsel and prenatal diagnosis are the only useful alternatives for the control of this phenomenon.
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PMID:[Menkes syndrome: study of 2 new cases]. 269 65

The authors describe a patient who presented from birth on a severe involvement of connective tissues with pathological fractures, lack of auricular cartilage, hyperlaxity of fingers and cutis laxa with deep folds, all suggestive of derangements of collagen and elastin. Hypothermia at 24 hours of age should have already indicated the possibility of Menkes' syndrome. From the 3rd month on, the patient presents a neurological deterioration and a myoclonic epilepsy which is resistant to treatment. Craniocerebral tomodensitometry revealed, with time, a cerebral atrophy and subdural hematomas. Angiodysplasia of a coronary artery was seen at cardiac echocardiography. Undetectable levels of serum copper and ceruloplasmin, and an increased uptake of copper by fibroblasts in vitro confirmed the diagnosis of Menkes' syndrome. Electron microscopy of a skin biopsy disclosed a desmosomal anomaly in the epidermis. Desmosomes stay apart suggesting an alteration of the interdesmosomal cement.
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PMID:[Menkes disease. Report of a case with pronounced involvement of connective tissues and changes in epidermal desmosomes]. 270 74

Chorionic villus samples with copper contents of 1.91, 4.2, 5.6, and 6.3 ng/mg were observed in four cases with male karyotypes. These values were outside the range for unaffected males (0.30-0.85 ng/mg), and three of them were outside the control range (0.20-2.39 ng/mg). But these three values were below the values previously observed for affected Menkes fetuses (12.0-24.8 ng/mg). Follow-up by 64Cu uptake studies on the amniotic fluid cells was performed in three of these cases. A combination of 64Cu uptake and chase experiments on the amniotic fluid cells showed more convincingly than 64Cu uptake per se the direct copper values of 4.2 and 5.6 ng/mg to correspond to affected fetuses. Amniotic fluid cells from the male fetus with the CV copper value of 1.9 ng/mg showed normal results. The CV copper value of 6.3 ng/mg was considered pathognomonic for Menkes disease. The pregnancy was terminated, and the diagnosis was confirmed on fetal fibroblasts. Maternal deciduum prepared from the placentae showed in one of the cases with an affected fetus copper values ranging from 1.5 to 5.7 ng/mg. In six additional diagnostic cases, the copper content was determined in both CV samples and maternal deciduum. In three of these cases with normal CV sample copper, maternal decidua values of 4.85-7.8 ng/mg copper were observed. These results show that maternal deciduum contamination of a CV sample could cause a false-positive diagnosis.
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PMID:First-trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetuses. 271 Jul 42

Female C57BL mice heterozygous for the brindled gene were mated to normal males and fed on a purified diet low in copper throughout gestation and lactation with (+Cu) or without (-Cu) Cu-supplemented drinking water. Male offspring of two genotypes (control, +/y and brindled, Mobr/y) were compared when 10-12 d old. Brindled mice from dams on the -Cu treatment were smaller and had lower packed cell volumes than brindled mice from dams on the +Cu treatment. The -Cu brindled mice were smaller than their littermate brothers (+/y) but had equivalent biochemical features consistent with severe Cu deficiency. Compared with control mice from dams on the +Cu treatment, caeruloplasmin (EC 1.16.3.1) activity was lower in offspring of all three other groups including Mobr/y mice who were not anaemic. Iron levels were similar in organs and bone marrow from all four groups of offspring. When dietary Cu is limiting in brindled mice a more severe Cu deficiency ensues. Thus, appropriate Cu nutriture is important to the management of Menkes' disease in humans, a genetic analogue of the brindled mouse.
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PMID:Effects of dietary copper deficiency on male offspring of heterozygous brindled mice. 278 80

Kinky hair disease, first described in 1962, is a sex-linked disorder, with its gene located on the long arm of the X chromosome close to the centromere. The condition is marked by intellectural deterioration, seizures, and poorly pigmented, friable hair. Bony changes, resembling scurvy, tortuosities of the cerebral and systemic vasculature, and diverticuli of the bladder are also seen. Biochemically, the most diagnostic alteration is a marked reduction in blood copper and ceruloplasmin levels. The mechanism for the low serum copper has not been defined. Even though parental copper administration will correct the biochemical abnormalities, such treatment will not arrest cerebral deterioration.
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PMID:Kinky hair disease: twenty five years later. 283 49

Steely hair disease, a neurodegenerative disorder, is characterized by slow growth, progressive cerebral dysfunction, kinky friable hair, x-linked inheritance, and death before three years of age. Low-serum copper has been found to play a role in steely hair disease. This article describes the role of copper, the pathophysiology of this disease, and current treatment and research. A case history and pertinent aspects of nursing care of these patients are also presented.
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PMID:Catecholamine metabolism in steely hair disease. 294 1

Menkes' kinky hair disease, a lethal X-linked recessive trait, is characterized by abnormal copper accumulation in several non-hepatic tissues. The level of many copper enzymes is severely reduced, leading to damage of the connective and nervous tissues of the patients. Cultured skin fibroblasts from Menkes' patients retain more copper then normal controls, and the excess metal is bound to metallothionein. Low doses of copper in the media induce MT gene transcription in Menkes' but not in normal cells. Transfection experiments using a plasmid containing the mouse MT-I promoter fused to the enzyme chloramphenicol acetyl transferase show that the activation of the mMTI promoter is in trans. Two other effects are observed in Menkes' cells: (a) two heat-shock like proteins are synthesized in response to low doses of copper in the growth medium, and (b) Menkes' cells are more sensitive then normal fibroblasts to copper toxicity. Our interpretation of these results supports a model for a defect in one or more steps in copper metabolism or transport.
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PMID:Abnormal copper metabolism and regulation of metallothionein gene expression in Menkes' disease. 295 38

An infant was seen for multiple fractures at the age of 10 weeks. He developed marked cortical thickening of many bones, which raised the suspicion of a battered child syndrome. Unusual progression of bone thickening and hitherto undescribed excessive bone remodeling led to the diagnosis of Menkes'kinky hair disease, a disorder of the connective tissue caused by a decreased copper bioavailability, to which disease the infant finally succumbed.
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PMID:[Menkes syndrome with excessive skeletal changes]. 299 77


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