A case study on menke’s disease, does it really exist

Received: 30-Oct-2021, Manuscript No. PULJNRP-21-3898; Editor assigned: 08-Nov-2021, Pre QC No. PULJNRP-21-3898(PQ); Accepted Date: Dec 28, 2021; Reviewed: 20-Nov-2021 QC No. QC No. PULJNRP-21-3898(Q); Revised: 12-Dec-2021, Manuscript No. PULJNRP-21-3898(R); Published: 02-Jan-2022, DOI: 10.37532/2632-251X.2022.6(1).37-38

Citation: Jayavaruani V. A case study on menke’s disease, does it really exist. J Nurs Res Pract. 2022;6(1):37-38.

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Abstract

Copper is the trace element which cannot be synthesized by the human body. So it is absorbed from the ingested food. The normal value of copper is 32g±21mcg/dl, while ceruloplasmin (serum ferroxidase, which contains 95% of plasma copper) is 6 to 12 mg/dl. Copper helps in the formation of RBCs, and keeps the blood cells, nerves, bones, and immune system healthy. Copper helps in the absorption of iron. This absorption is enhanced by the gene called ATP7A. A defective gene ATP7A impairs the transport and absorption of copper. Menke’s disease is a rare X- linked recessive disorder which causes a deficiency of copper levels in the body. This case study elaborates on a child with Menke’s disease and its management.

Key Words: Ceruloplasmin; Copper; ATP7A gene

Introduction

An 8-year-old boy with K/C/O Menke’s Disease with developmental delay, was now admitted with complaints of difficulty in micturition, dribbling of urine, and abdominal pain [1]. He was a premature baby born by 7 months LSCS and was normal, but with milestone delay up to 9 months of age, then after he developed limb dystrophy, hypotonia, dysphasia, failure to thrive, sagging facial features, and kinky and brittle hair. Blood and urine tests were conducted to rule out the cause. X ray of the skull and skeleton was conducted to look for bone abnormalities [2]. A Genetic test was performed and was confirmed to have an ATP7A gene defect, and was diagnosed to have MENKE’S DISEASE. The child was treated conservatively with symptomatic management and very frequently develops Urinary Tract Infection, Blood pressure elevation, and poor oral intake. Now he was treated for UTI, catheterized, on IV fluids, and with antibiotics [3].

About the disease condition

Menke’s disease also known as Menkes syndrome is an X– Linked recessive disorder caused due to mutation of the genes coding for copper transporting protein ATP7A leading to copper deficiency [4], characterized by sparse kinky hair, failure to gain weight, and deterioration of nervous system [5].

Epidemiology

1 in 35,000 male live births worldwide. Females are usually carriers.

Etiology.

•  Mutation of ATP7A gene.
•  Point mutation and skewed inactivation of X chromosome.

Pathophysiology

• ATP 7A Gene is an active Copper transporter, a transmembrane protein present in the Golgi bodies in enterocytes, placenta, and central nervous system except for the liver.
•  The small intestine controls the absorption of ingested copper from blood.
•  in other cells, protein travels between the Golgi apparatus and the cell membranes to maintain copper concentration.
•  ATP7A protein helps in modifying the other proteins, including the enzymes These enzymes help in the formation of bone, skin, hair, nervous system, and blood vessels.

Neurodegeneration in the grey matter of the brain

•  Arteries in the brain may be twisted with the frayed and split inner wall
•  Blockage of the arteries of the brain
• Osteoporosis (weakened bones) bone spurs
• Feeding difficulties 
• Pudgy, rosy cheeks
•  Irritability

Diagnostic evaluation

•  Blood test- copper and ceruloplasmin levels in the blood
•  Skin biopsy
•  Optic microscopic examination of the hair
•  Xrays of the skull and the bones of the limbs
•  Urine Homovanillic acid and vanillylmandelic acid ratio
•  Genetic testing

 TABLE 1

Difference between Menkes and Wilson disease

Management

Copper supplements with acetate or glycinate at earlier periods Symptomatic treatments (Table 1):

•  Pain medications
•  Anti-seizure drugs
•  Feeding tube
•  Physical and occupational therapy.

DISCUSSION

Copper helps in the formation of RBCs, and keeps the blood cells, nerves, bones, and immune system healthy. Copper helps in the absorption of iron. This absorption is enhanced by the gene called ATP7A. A defective gene ATP7A, impairs the transport and absorption of copper. Menke’s disease is a rare X- linked recessive disorder which causes a deficiency of copper levels in the body.

CONCLUSION

Menke’s disease is an under-diagnosed entity, being familiar with its manifestations is essential for its earlier detection and prompt treatment. 

REFERENCES

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