Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

1989 ◽  
Vol 12 (S1) ◽  
pp. 207-214 ◽  
Author(s):  
T. Tønnesen ◽  
N. Horn
Keyword(s):  
Copper Metabolism ◽  
Menkes Disease ◽  
Postnatal Diagnosis

scholarly journals A MENKES DISEASE CASE WITH MULTILABEL COMORBIDITIES

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Salha Alhjohani
Keyword(s):  
Tract Infection ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Upper Respiratory Tract ◽  
Incurable Disease ◽  
Rare Congenital Disorder ◽  
Disease Case ◽  
Progressive Neurodegeneration ◽  
Parental Counseling ◽  
Upper Respiratory

We report our case of a 15 months old male child, a product of nonconsanguineous marriage presented with increased seizure frequency more than 4 times a day with fever and upper respiratory tract infection for 1 month. He diagnosed with Menkes disease and his oldest brother died at age of 5 year due to the same disease. Menkes disease is a rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and connective tissue anomalies. He had almost the typical clinical finding but also, he had other complications which are non commonly found in such cases. As the Menkes disease is incurable disease, early diagnosis and parental counseling is very important for the mother in order to prevent getting a child with same disease.

IV. Wilson’s disease and Menkes disease

1999 ◽  
Vol 276 (2) ◽  
pp. G311-G314 ◽  
Author(s):  
Mark Schaefer ◽  
Jonathan D. Gitlin
Keyword(s):  
Wilson’S Disease ◽  
Clinical Presentation ◽  
Genetic Disorders ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Inherited Disorders ◽  
Specific Expression ◽  
Cellular Copper ◽  
Golgi Network

Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson’s disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases that reside in the trans-Golgi network of all cells. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same manner within the cell and the unique clinical features of each disease are entirely the result of the tissue-specific expression of each protein. Elucidation of the basic defect in these rare genetic disorders has provided a valuable heuristic paradigm for understanding the mechanisms of cellular copper homeostasis.

An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease

Neurology ◽  
1981 ◽  
Vol 31 (7) ◽  
pp. 852-852 ◽  
Author(s):  
R. H. Haas ◽  
A. Robinson ◽  
K. Evans ◽  
P. T. Lascelles ◽  
V. Dubowitz
Keyword(s):  
Nervous System ◽  
Copper Metabolism ◽  
Menkes Disease

scholarly journals Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test

2008 ◽  
Vol 1 ◽  
pp. CPath.S565 ◽  
Author(s):  
Lisbeth Birk Møller ◽  
Nina Horn
Keyword(s):  
False Negative ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Allelic Exclusion ◽  
Missense Mutations ◽  
Coding Region ◽  
Protein Truncation Test ◽  
Exon 2 ◽  
Negative Results ◽  
Protein Truncation

Menkes disease (MD) is a rare recessively inherited lethal disorder of copper metabolism. The gene ATP7A defective in MD consists of 23 exons and the coding region encompasses 4500 bp. About 300 distinct mutations, representing all types, have been identified in ATP7A. However all mutations identified so far in the exon 2 to exon 7, corresponding to 1869 bp of the coding sequence, result in truncated protein products. No missense mutations have been identified in this region. As about 30% of the total number of mutations identified are located in exon 2 to exon 7, we have designed a protein truncation test (PTT) for rapid detecting of mutations in this part of the gene. In order to determine the applicability of the test, we analysed RNA obtained from eleven MD patients with known mutations in this region. As a truncated product could be identified in all the included samples, PTT proves to be a useful technique for rapid detection of mutations in the N-terminal part of the ATP7A gene. Furthermore as MD is a X-linked disease, normally only affecting boys, the risk of false negative results, due to nonsense mediated RNA decay, leading to allelic exclusion, can be left out of account.

scholarly journals Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

2015 ◽  
Vol 61 (5) ◽  
pp. 407-410 ◽  
Author(s):  
Larissa Sampaio de Athayde Costa ◽  
Stephanie Pucci Pegler ◽  
Rute Facchini Lellis ◽  
Vera Lúcia Jornada Krebs ◽  
Stephen Robertson ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Neonatal Period ◽  
Correct Diagnosis ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Serum Copper ◽  
Clinical Findings ◽  
Male Fetus ◽  
Neurological Alterations ◽  
Low Levels

Summary Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the diagnosis. Treatment is parenteral administration of copper histidine. We report a familial case with molecular confirmation. The proband had clinical and biochemical suspicious. Treatment with copper histidine was indicated, but initiated at the age of 2 months and 27 days only. He did not present improvements and died at 6 months. The mother became pregnant again, a male fetus was identified and copper histidine was manufactured during pregnancy. He was born healthy, biochemical markers were reduced and treatment was indicated. Molecular analysis was performed confirming mutation in both the mother and the proband, while the other son did not have mutation, so treatment was discontinued. We support the clinical relevance of molecular confirmation for the correct diagnosis and genetic counseling, once clinical findings in the neonatal period are nonspecific and early treatment with parenteral copper histidine must be indicated.

Menkes Disease: Recent Advances and New Insights into Copper Metabolism

1996 ◽  
Vol 28 (2) ◽  
pp. 121-129 ◽  
Author(s):  
Zeynep Türner ◽  
Nina Horn
Keyword(s):  
Copper Metabolism ◽  
Menkes Disease ◽  
Recent Advances

Menkes Disease after Copper Histidine Replacement Therapy: Case Report

2001 ◽  
Vol 4 (3) ◽  
pp. 281-288 ◽  
Author(s):  
David H. George ◽  
Robin E. Casey
Keyword(s):  
Connective Tissue ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Differential Sensitivity ◽  
Multiple Systems ◽  
Bladder Diverticula ◽  
Significant Pathology ◽  
The Central Nervous System ◽  
Tissue Abnormalities ◽  
Pathological Report

Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressive disorders of multiple systems, especially the central nervous system (CNS) and connective tissue, and death by 3 years of age. Recently, therapy with copper-histidine has modified the severity of MD and permitted survival into adolescence. Clinical response has been greater for the neurological abnormalities than for the connective tissue abnormalities. In this report, we describe the postmortem pathology of one individual who had received copper-histidine therapy and died at age 10; we believe this to be the first such pathological report. The postmortem examination demonstrated significant pathology of mesenchymal tissues, including skeletal abnormalities, vascular degeneration, and bladder diverticula. The CNS, by contrast, showed minimal pathology. The phenotype was more consistent with occipital horn syndrome, a milder allelic disorder of copper metabolism, than with classic MD. The differential sensitivity of CNS and mesenchymal tissues to copper-histidine therapy may result from heterogeneity in the response of different copper-dependent enzymes.

Copper Metabolism, ATP7A and Menkes Disease

2015 ◽  
pp. 1-15
Author(s):  
Hannah Pierson ◽  
Svetlana Lutsenko ◽  
Zeynep Tümer
Keyword(s):  
Copper Metabolism ◽  
Menkes Disease

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

2010 ◽  
pp. 1688-1693
Author(s):  
Michael L. Schilsky ◽  
Pramod K. Mistry
Keyword(s):  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Copper Transport ◽  
Genetic Defects ◽  
Loss Of Function ◽  
Essential Metal ◽  
Inherited Diseases ◽  
P Type

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described. An uncommon disorder (1 in 30 000) caused by autosomal recessive loss of function mutations in a metal-transporting P-type ATPase (...

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