nutritional disorders
Copper Deficiency
InheritedCopperDeficiency (Menkes Syndrome)
Inheritedcopperdeficiency occurs in male infants who inherit a mutant X-linked gene. Incidence is about 1 in 100,000 to 250,000 live births.Copperis deficient in the liver, serum, and essentialcopperproteins, including cytochrome-c oxidase, ceruloplasmin, and lysyl oxidase. (See also Wilson Disease .) Symptoms of inheritedcopperdeficiency are severe intellectual disability, vomiting, diarrhea, protein-losing enteropathy, hypopigmentation, bone changes, and arterial rupture; the hair is sparse, steely, or kinky. Most affected children die by age 10 years. Serumcopperand ceruloplasmin levels Diagnosis of inheritedcopperdeficiency is based on lowcopperand ceruloplasmin levels in serum. Because early diagnosis and treatment seem to result in a better prognosis, the disorder is ideally detected before age 2 weeks. However, diagnostic accuracy of these tests is limited. Thus, other tests are being developed. Copperhistidine Parenteralcopperis usually given ascopperhistidine 250 mcg subcutaneous injection twice a day to age 1 year, then 250 mcg subcutaneously once a day after the first year; monitoring of kidney function is essential during treatment. IV supplementation can be used to treat severecopperdeficiency. Despite early treatment, many children have abnormal neurodevelopment. 