Menkes Disease Cooper

Menkes Disease Cooper is also called Menkes disease, kinky hair, or X-linked copper deficiency. It is caused by a variation in the ATP7A gene, which is responsible for transporting copper throughout the body. Many enzymes require copper for their normal functioning. Due to a lack of copper , these enzymes do not function naturally in Menkes disease , which eventually affects the hair , brain , bones , liver and arteries. Menkes Disease Cooper The syndrome is a rare inherited disorder that affects a male child under the age of one year. Low copper levels result from abnormal copper handling in the body. What are the reasons behind Menkes syndrome? Copper is necessary for many cellular functions, but it is toxic in large quantities. Mutations in the ATP7A gene cause poor copper distribution to the body's cells.

Menkes Disease Cooper

Menkes Disease Cooper General Information

Pathology refers to orphan diseases that affect 1:40,000 to 1:250,000 newborns. The disease affects only boys and is named after J. H. Menkes, a pediatric neurologist who described the characteristic symptoms in 1962. The occipital horn syndrome is a simple variant of the pathology that appears after one year of age and does not result in fatal complications. It is distinguished by excessive occipital bone calcification, coarse and coarse hair, and flabbiness of the skin.


Menkes Disease Cooper also Known with following names

• Menkea Syndrome
• Steely Hair Syndrome
• X-Linked Copper Deficiency
• Copper Transport Disease
• Hypocupremia, Congenital
• Kinky Hair Syndrome
• Menkes Disease
• MNK

Menkes Disease Cooper Reasons:

The etiological factor of pathology has been deciphered thanks to medical genetics advances. Menkes Disease Cooper is caused by a mutation in the ATP7A alpha polypeptide gene, which regulates the work of ATPase, which is responsible for copper ion transport. The mutation occurs at the Xq12-q13 locus on the long arm of the X chromosome. Because curly hair disease is recessive, it affects only boys. Although girls are carriers of the mutant gene, no cases of their disease have been documented.

Pathogenesis:

The structure of one of the transmembrane proteins is disrupted in this hereditary pathology, preventing copper ions from being transported normally and participating in metabolic processes. The child suffers from a lack of copper-containing proteins, which are normally required for metabolism, tissue respiration, and redox reactions.

The lack of a microelement causes disturbances in the production of melanin, a decrease in the concentration of collagen and keratin in tissues, and a decrease in the ability to detoxify free radicals. An important link in the pathogenesis is a decrease in the synthesis of dopamine, which provokes serious neurological disorders at an early age. Since the copper-containing protein ceruloplasmin is responsible for the oxidation of iron, hematopoiesis is inhibited in its absence.

Menkes Disease Cooper Symptoms

Menkes Disease Cooper can cause complications of pregnancy - difficult or premature birth, but up to 70% of women do not experience pathologies of the intranatal period. Some babies develop cephalohematomas and fractures during childbirth, even in the absence of active actions from obstetricians. Warning symptoms include funnel chest deformity , congenital umbilical or inguinal hernia.

The first signs of curly hair disease appear in the neonatal period. The infant has hypothermia, prolonged jaundice with high bilirubinemia , and the terms of physiological postpartum adaptation are lengthened. Sometimes in the neonatal period, parents notice characteristic hair changes: the formation of nodules and the formation of spindle-shaped (“curly”) hairs. At this time, the physical and mental development of the newborn is normal.

After 2-3 months of life, obvious signs of a genetic disease are recorded. A neurological deficit becomes apparent. The child struggles with psychomotor development and forgets previously learned skills; he also suffers from periodic convulsive seizures. Due to extensive neurodegenerative cerebral processes, the disease manifests itself with spastic tetraparesis in the later stages. The skin becomes excruciatingly pale and yellow.

Pathognomonic changes in the form of curly hair due to trichopolydystrophy are revealed in the first year of life, giving rise to the genetic syndrome's second name. Hair becomes dull and stiff, gray or "gray" in color, and twists into tight spirals. Excessive skin extensibility and joint hypermobility are symptoms of collagen metabolism disorders, which are clinically similar to the Ehlers-Danlos syndrome.

Menkes Disease Cooper more symptoms are.

• Low Body Temperature
• Developmental Delay
• Intellectual Disability
• Facial Skin Pain
• Feeding Difficulties
• Skeletal Changes
• Failure To Thrive
• Rosy Cheeks
• Osteoporosis
• Tangled Hair
• Hypotonia
• Recovery

Menkes Disease Cooper Complications

Curly hair syndrome is characterized by urinary system abnormalities, particularly urinary tract diverticula, which cause recurrent urogenital infections. Elongation, excessive tortuosity, and changes in arterial diameter are all common vascular abnormalities. The vessels of the brain and skin are most commonly affected. Generalized osteoporosis and spontaneous fractures occur in children. Seborrheic dermatitis is linked to Menkes disease.

Blindness and respiratory failure are late effects of the illness. Cardiovascular complications are the worst. The child could have hematomas, spontaneous artery ruptures, or thrombotic disorders. Most patients pass away within the first three years of life from severe neurodegenerative conditions, generalized infections, and intracranial hemorrhages.

Menkes Disease Cooper Diagnostics

An experienced pediatrician may suspect curly hair disease during a physical examination of the child, revealing characteristic trichopolydystrophy and neurological disorders. Diagnosis involves instrumental imaging to assess the condition of the affected organs and laboratory tests to verify copper metabolism disorders and gene mutations.

The Diagnostic Plan's Major Components:

The Brain MRI:

Neuroimaging studies reveal focal areas of cortical and subcortical atrophy, as well as gray matter necrosis. Cerebellar atrophy is a common Menkes Disease Cooper symptom. If an intracranial hemorrhage is suspected, a CT scan of the brain provides a wealth of information.

EEG:

The study is being conducted to determine the cause of convulsive seizures and to identify epileptiform activity foci in the brain. The neurologist uses the electroencephalogram to diagnose slow-wave activity and the presence of multifocal adhesions.

Blood Tests:

Valuable information for the diagnosis is provided by the study of the level of ceruloplasmin. In Menkes syndrome, as well as Wilson-Konovalov disease, this figure is reduced. To clarify the diagnosis, a biochemical study of liver biopsy specimens is performed and a decrease in the copper content is detected.

Genetic Tests:

To confirm the mutation, medical genetic counseling of the child and his parents is recommended. To identify the pathology of the ATP7A gene, the genetic code and DNA sequence abnormalities in the corresponding section of the boy's X chromosome are determined. According to the indications, an examination of the mother of the child is carried out.

Menkes Disease Cooper Treatment

An effective treatment has not yet been developed. To reduce micronutrient deficiencies and improve metabolism, copper is administered parenterally in the form of histidinate. This method of obtaining mineral guarantees its delivery to all organs and tissues, which activates enzyme systems, normalizes oxidative phosphorylation and the functioning of the nervous system.

The results of clinical studies show that the early administration of parenteral copper slows the progression of neurological deficits and prolongs the life of children with curly hair disease. In them, the disease proceeds in a milder form, without convulsions and severe cognitive impairment. The complexity of treatment lies in the timely diagnosis of pathology, which is associated with its rare occurrence.

Symptomatic therapy includes analgesics, anticonvulsants and psychotropic drugs. They are designed to make life easier for the patient. If natural feeding is not possible, a tube is inserted or parenteral nutrition is used. A child diagnosed with Menkes disease needs comprehensive rehabilitation with the participation of physiotherapists, psychologists, and speech therapists.

Menkes Disease Cooper Symptoms That Indicate a Complication

• The patient also shows progressive neurological worsening, which begins in the first year of life. Infants present with seizures, delayed muscle tone and development.
• The affected baby may also have jaundice, low body temperature, osteoporosis (low bone density), bone fractures.
• The affected child will have brittle and silvery hair. Their skin appearance is dry due to connective disturbances.
• Brain imaging shows cerebral and cerebellar atrophy with white matter changes.
• Cerebral blood vessels are usually tortuous and elongated.

Menkes Disease Cooper Alternative Medicine For The Treatment

The following alternative therapies and therapies are known to help treat or manage Menkes disease:

Menkes Disease Cooper Physical Therapy: Reduces the signs and symptoms of Menkes disease.

Menkes Disease Cooper Occupational Therapy: Improving Functional Efficiency