Menkes kinky hair disorder is an X-linked recessive progressive multiorgan copper metabolism disease. Patients often have a severe clinical history and death in childhood.
Menkes disease is difficult to diagnose early due to mild clinical symptoms and nonspecific laboratory indicators.
Correct diagnosis is critical for optimal care, reducing mortality and morbidity, and for prenatal diagnosis and parental counseling.
Epidemiology
Menkes disease affects around 1 in every 35,000 live male births. In the United States, the prevalence ranges from 1 in 50,000, with novel mutations accounting for one-third of these occurrences. Research completed in Japan between 1993 to 2003 discovered that the incidence of Menkes disease was 1 in every 2.8 million live births. The male live birth rate was found to be 4.9 per million.
Typically, females are carriers; however, instances have been observed owing to rare genetic conditions. The incidence is substantially greater in Australia (1 in 100,000), which may be attributable to the founder impact. Menkes kinky hair disorder has no ethnic or racial predisposition. According to the genetic hypothesis, one-third of Menkes kinky hair disorder cases have novel mutations.
The X-linked recessive trait causes Menkes kinky hair disorder nearly exclusively in males. Females are carriers but rarely show symptoms unless there are certain genetic factors. Menkes kinky hair disorder manifests about six to eight weeks after birth when parents observe delayed development or the appearance of an odd eye or strange limb motions suggestive of seizure activity.
Anatomy
Pathophysiology
Menkes kinky hair disorder directly results from enzyme malfunction or inability to load these enzymes with Cu. When ATP7A fails in the enterocytes, the efflux pump also fails, resulting in excessive Cu buildup in the enterocytes and widespread Cu deficiency. Cytochrome C oxidase, tyrosinase, dopamine beta-hydroxylase, lysyl oxidase, and peptidyl glycine alpha amidating monooxygenase are enzymes that need copper for copper vital metabolic processes.
Cytochrome oxidase deficiency impairs cellular respiration and triggers CNS collapse and ataxia. Autonomic symptoms such as hypothermia and hypotension are caused by irregular catecholamine production caused by dopamine beta-hydroxylase deficiency.
Menkes disease also has significant connective tissue deformities, including joint, skin, and bone abnormalities, and decreased blood vessel reliability due to the lack of lysyl oxidase and faulty collagen and elastin cross-linking. Hair abnormalities and skin hypopigmentation are caused by sulfhydryl oxidase and tyrosinase abnormality, respectively.
Etiology
The underlying problem in copper metabolism in Menkes disease is caused by a mutation in the ATP7A gene discovered on Xq13.3, containing 23 exons. This gene encodes 1500 amino acids and is extensively expressed in tissues such as the lungs, brain, kidneys, and muscles.
In the ATP7A gene, 357 distinct mutations have been discovered, including insertions, deletions, splice, and missense mutations. According to genetic tests, 75% of patients’ mothers are carriers, whereas the remaining 25% are not. There is no apparent link between mutations and clinical outcomes.
As predicted, most patients are men, but a few female cases have also been documented. It is likely the result of X autosome translocation, in which standard X is selectively inactivated. Point mutations and skewed inactivation of the normal X chromosome are two further possibilities.
Genetics
Prognostic Factors
The life expectancy of children with Menkes kinky hair disorder is challenging to predict. However, most of these children die before the age of three.
Pneumonia, which causes respiratory failure, has been identified as a common cause of mortality. However, some deaths occur unexpectedly without a medical reason.
Clinical History
Physical Examination
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
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Targeted Therapy
Palliative Care
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Future Trends
Media Gallary
References
https://www.ncbi.nlm.nih.gov/books/NBK560917
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Menkes kinky hair disorder is an X-linked recessive progressive multiorgan copper metabolism disease. Patients often have a severe clinical history and death in childhood.
Menkes disease is difficult to diagnose early due to mild clinical symptoms and nonspecific laboratory indicators.
Correct diagnosis is critical for optimal care, reducing mortality and morbidity, and for prenatal diagnosis and parental counseling.
Menkes disease affects around 1 in every 35,000 live male births. In the United States, the prevalence ranges from 1 in 50,000, with novel mutations accounting for one-third of these occurrences. Research completed in Japan between 1993 to 2003 discovered that the incidence of Menkes disease was 1 in every 2.8 million live births. The male live birth rate was found to be 4.9 per million.
Typically, females are carriers; however, instances have been observed owing to rare genetic conditions. The incidence is substantially greater in Australia (1 in 100,000), which may be attributable to the founder impact. Menkes kinky hair disorder has no ethnic or racial predisposition. According to the genetic hypothesis, one-third of Menkes kinky hair disorder cases have novel mutations.
The X-linked recessive trait causes Menkes kinky hair disorder nearly exclusively in males. Females are carriers but rarely show symptoms unless there are certain genetic factors. Menkes kinky hair disorder manifests about six to eight weeks after birth when parents observe delayed development or the appearance of an odd eye or strange limb motions suggestive of seizure activity.
Menkes kinky hair disorder directly results from enzyme malfunction or inability to load these enzymes with Cu. When ATP7A fails in the enterocytes, the efflux pump also fails, resulting in excessive Cu buildup in the enterocytes and widespread Cu deficiency. Cytochrome C oxidase, tyrosinase, dopamine beta-hydroxylase, lysyl oxidase, and peptidyl glycine alpha amidating monooxygenase are enzymes that need copper for copper vital metabolic processes.
Cytochrome oxidase deficiency impairs cellular respiration and triggers CNS collapse and ataxia. Autonomic symptoms such as hypothermia and hypotension are caused by irregular catecholamine production caused by dopamine beta-hydroxylase deficiency.
Menkes disease also has significant connective tissue deformities, including joint, skin, and bone abnormalities, and decreased blood vessel reliability due to the lack of lysyl oxidase and faulty collagen and elastin cross-linking. Hair abnormalities and skin hypopigmentation are caused by sulfhydryl oxidase and tyrosinase abnormality, respectively.
The underlying problem in copper metabolism in Menkes disease is caused by a mutation in the ATP7A gene discovered on Xq13.3, containing 23 exons. This gene encodes 1500 amino acids and is extensively expressed in tissues such as the lungs, brain, kidneys, and muscles.
In the ATP7A gene, 357 distinct mutations have been discovered, including insertions, deletions, splice, and missense mutations. According to genetic tests, 75% of patients’ mothers are carriers, whereas the remaining 25% are not. There is no apparent link between mutations and clinical outcomes.
As predicted, most patients are men, but a few female cases have also been documented. It is likely the result of X autosome translocation, in which standard X is selectively inactivated. Point mutations and skewed inactivation of the normal X chromosome are two further possibilities.
The life expectancy of children with Menkes kinky hair disorder is challenging to predict. However, most of these children die before the age of three.
Pneumonia, which causes respiratory failure, has been identified as a common cause of mortality. However, some deaths occur unexpectedly without a medical reason.
https://www.ncbi.nlm.nih.gov/books/NBK560917
medtigo
Menkes Kinky Hair Disease
Updated :
August 24, 2023
Menkes kinky hair disorder is an X-linked recessive progressive multiorgan copper metabolism disease. Patients often have a severe clinical history and death in childhood.
Menkes disease is difficult to diagnose early due to mild clinical symptoms and nonspecific laboratory indicators.
Correct diagnosis is critical for optimal care, reducing mortality and morbidity, and for prenatal diagnosis and parental counseling.
Menkes disease affects around 1 in every 35,000 live male births. In the United States, the prevalence ranges from 1 in 50,000, with novel mutations accounting for one-third of these occurrences. Research completed in Japan between 1993 to 2003 discovered that the incidence of Menkes disease was 1 in every 2.8 million live births. The male live birth rate was found to be 4.9 per million.
Typically, females are carriers; however, instances have been observed owing to rare genetic conditions. The incidence is substantially greater in Australia (1 in 100,000), which may be attributable to the founder impact. Menkes kinky hair disorder has no ethnic or racial predisposition. According to the genetic hypothesis, one-third of Menkes kinky hair disorder cases have novel mutations.
The X-linked recessive trait causes Menkes kinky hair disorder nearly exclusively in males. Females are carriers but rarely show symptoms unless there are certain genetic factors. Menkes kinky hair disorder manifests about six to eight weeks after birth when parents observe delayed development or the appearance of an odd eye or strange limb motions suggestive of seizure activity.
Menkes kinky hair disorder directly results from enzyme malfunction or inability to load these enzymes with Cu. When ATP7A fails in the enterocytes, the efflux pump also fails, resulting in excessive Cu buildup in the enterocytes and widespread Cu deficiency. Cytochrome C oxidase, tyrosinase, dopamine beta-hydroxylase, lysyl oxidase, and peptidyl glycine alpha amidating monooxygenase are enzymes that need copper for copper vital metabolic processes.
Cytochrome oxidase deficiency impairs cellular respiration and triggers CNS collapse and ataxia. Autonomic symptoms such as hypothermia and hypotension are caused by irregular catecholamine production caused by dopamine beta-hydroxylase deficiency.
Menkes disease also has significant connective tissue deformities, including joint, skin, and bone abnormalities, and decreased blood vessel reliability due to the lack of lysyl oxidase and faulty collagen and elastin cross-linking. Hair abnormalities and skin hypopigmentation are caused by sulfhydryl oxidase and tyrosinase abnormality, respectively.
The underlying problem in copper metabolism in Menkes disease is caused by a mutation in the ATP7A gene discovered on Xq13.3, containing 23 exons. This gene encodes 1500 amino acids and is extensively expressed in tissues such as the lungs, brain, kidneys, and muscles.
In the ATP7A gene, 357 distinct mutations have been discovered, including insertions, deletions, splice, and missense mutations. According to genetic tests, 75% of patients’ mothers are carriers, whereas the remaining 25% are not. There is no apparent link between mutations and clinical outcomes.
As predicted, most patients are men, but a few female cases have also been documented. It is likely the result of X autosome translocation, in which standard X is selectively inactivated. Point mutations and skewed inactivation of the normal X chromosome are two further possibilities.
The life expectancy of children with Menkes kinky hair disorder is challenging to predict. However, most of these children die before the age of three.
Pneumonia, which causes respiratory failure, has been identified as a common cause of mortality. However, some deaths occur unexpectedly without a medical reason.
https://www.ncbi.nlm.nih.gov/books/NBK560917
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