Menkes syndrome
अंतिम अद्यतन 7 Apr 2021
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
विवरण
Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterised by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
Copper transport disease
Hypocupremia, congenital
Kinky hair syndrome
Menkea syndrome
Menkes disease
MK
MNK
Steely hair syndrome
X-linked copper deficiency
Related patient information and medicines
Patient information leaflet
क्लाइनफेल्टर सिंड्रोम
Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. Betwee... It is a sex chromosome trisomy. Instead of being 46, XY, men or boys with KS are usually 47, XXY. Dr Harry F. Klinefelter first described this syndrome in the USA in 1942. The condition.
Patient information leaflet
बेचैन पैर सिंड्रोम
Restless legs syndrome causes uncomfortable feelings in your legs. As a result, you have an urge to move your legs which gives temporary relief. What is restless legs syndrome. Restless legs syndrome (RLS) है कभी-कभी called Willis-Ekbom disease after the doctors who first described it. It is a condition where you have an urge to move your legs..
Patient information leaflet
अति सक्रिय मूत्राशय सिंड्रोम
अति सक्रिय मूत्राशय सिंड्रोम is very common. Symptoms of overactive bladde... Overactive bladder (OAB) syndrome means that the bladder, which is a bag made of muscle, squeezes (contracts) suddenly without you having control and when the bladder is not full. (For example, it is not due to a urine infection or an enlarged prostate gland.). Overactive.
Patient information leaflet
मार्फन सिंड्रोम
मार्फन सिंड्रोम (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome can affect different people in different ways. Some ... Marfan syndrome can affect the connective tissue in different parts of your body, including your heart,.
Patient information leaflet
कुशिंग सिंड्रोम
Cushing's syndrome is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Cushing's... This condition was first described by a Dr Cushing who first wrote about it in the early 20th.
Patient information leaflet
सूक्ष्मवाहिकीय एनजाइना
यहाँ है no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
अधिक पठन और संदर्भ
- Menkes syndrome; MedlinePlus, National Library of Medicine.
- Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. doi: 10.1074/jbc.M413840200. Epub 2005 Jan 5.
- Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
- de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88. doi: 10.1136/jmg.2007.052746. Epub 2007 Aug 23.
- Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007 Aug;44(8):492-7. doi: 10.1136/jmg.2007.050013. Epub 2007 May 11.
- Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci. 2003 Oct;40(5):547-86.
- Kaler SG, DiStasio AT. ATP7A-Related Copper Transport Disorders. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1413/
- Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.
- Lutsenko S, Washington-Hughes C, Ralle M, Schmidt K. Copper and the brain noradrenergic system. J Biol Inorg Chem. 2019 Dec;24(8):1179-1188. doi: 10.1007/s00775-019-01737-3. Epub 2019 Nov 5.
- Madsen E, Gitlin JD. Copper deficiency. Curr Opin Gastroenterol. 2007 Mar;23(2):187-92. doi: 10.1097/MOG.0b013e32801421bb.
- Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol. 1999;3(4):147-58. doi: 10.1016/s1090-3798(99)90048-x. No abstract available.
- National Institute of Neurological Disorders and Stroke
- Prohaska JR. Role of copper transporters in copper homeostasis. Am J Clin Nutr. 2008 Sep;88(3):826S-9S. doi: 10.1093/ajcn/88.3.826S.
- Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006 Nov;8(11):711-8. doi: 10.1097/01.gim.0000245578.94312.1e.
- Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363-71. doi: 10.1023/a:1021250003104.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.