What are the treatment options for Menkes disease?
There is no specific treatment for Menkes disease (MD). Some boys with MD respond to early treatment (started in the first weeks of life) with copper complexes (mainly copper-histidine). This treatment may prevent or slow nervous system damage, decrease the number of seizures, and increase lifespan.
Should infants with Menkes disease be treated with copper?
Infants with Menkes disease who began copper treatment within the neonatal period had better survival than infants who began treatment later. To identify candidates for treatment, we exploited the copper dependence of dopamine-β-hydroxylase by measuring plasma catecholamine levels in infants at risk.
What are the clinical outcomes of newborns with Menkes disease?
Neurodevelopmental Outcomes in Patients Who Received a Diagnosis of Menkes Disease as Newborns. Clinical neurodevelopmental outcomes at 36 months of age are shown for Patients 1 to 9 (Panel A). Patient 1 died at 19 months of age.
Can a male with Menkes disease pass it to his son?
A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Males with Menkes disease have not been reported to live to reproductive age. Fertility of individuals with mild Menkes disease or occipital horn syndrome is not known.
Can Menkes syndrome be treated?
There is no complete cure for Menkes disease at this time, but treatment with parenteral copper histidinate (CuHis) can increase survival and lessen the neurological symptoms if initiated early, within approximately 28 days following birth.
How long do kids with Menkes live?
The life expectancy for those with Menkes is typically less than 10 years, with the majority of children diagnosed with the disease dying within the first three years of life.
What happens in Menkes disease?
Description. Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system.
Can girls have Menkes?
Background. Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected.
What happens if you are copper deficient?
Signs of possible copper deficiency include anemia, low body temperature, bone fractures and osteoporosis, low white blood cell count, irregular heartbeat, loss of pigment from the skin, and thyroid problems.
What are the symptoms of Menkes syndrome?
Common symptoms of Menkes disease in infants are:Brittle, kinky, steely, sparse, or tangled hair.Pudgy, rosy cheeks, sagging facial skin.Feeding difficulties.Irritability.Lack of muscle tone, floppiness.Low body temperature.Intellectual disability and developmental delay.Seizures.More items...
Recognition
- NORD gratefully acknowledges John H. Menkes, MD, Professor Emeritus of Neurology and Pediatrics, UCLA School of Medicine, and Director Emeritus of Pediatric Neurology, Cedars-Sinai Medical Center, for assistance in the preparation of this report.
Diagnosis
- Menkes disease is a genetic disorder of copper metabolism that is detectable before birth (prenatally) and which follows a progressively degenerative path involving several organs of the body but especially the brain. It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair.
Pathophysiology
- It is the failure of the copper transport systems within the cell and then across the cell membrane that is responsible for the symptoms of the disorder. Because of the failure of this transport system, copper is unavailable to various cells where it is essential for the structure and function of various enzymes that control the development of hair, brain, bones, liver and arteries.
Cause
- Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene that is responsible for production of the ATPase enzyme that regulates copper levels in the body. Variants of Menkes that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome.
Purpose
- The information in NORDs Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
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