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hartnup disorder…

 

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hartnup disorder, inherited metabolic disorder involving the transport of certain amino acids, tryptophan, histidine, small intestine, kidneys, hartnup disorder is possibly the most common metabolic condition involving amino acids, a genetic disorder inherited in an autosomal recessive manner, that the child must inherit the defective gene from both parents, seriously affected, most people show no symptoms, photosensitivity, major symptom, uncoordinated movements, mood changes often appear together condition, begins in childhood, skin rash, on exposure to sunlight, widely spaced episodes of uncoordinated movement, rare, mood changes, psychiatric disease, rare, neurologic problems, abnormal muscle tone, a urinalysis that checks, elevated levels of "neutral" amino acids, normal levels of other amino acids done, a genetic test, become available soon, , supplements containing nicotinamide, the main treatment, effectively treat the rash, treat the uncoordination, psychiatric symptoms, a high protein diet, avoiding sun exposure by wearing protective clothing, using a sunscreen of 15 factor, higher, psychiatric treatment, use of antidepressants, mood stabilizers, mood swings, psychiatric problems occur, most people, expect a normal lifespan, no disability, have been reports of severe bouts of neurologic disease, deaths in families, no complications, minority of people who develop symptoms, experience rash, uncoordinated movements, less frequently psychiatric symptoms, call, have symptoms suggestive of this condition, family history of hartnup disorder, genetic counseling, family history of this condition, planning a pregnancy, genetic counseling, prevent some cases, a high protein diet, prevent amino acid deficiencies that cause symptoms.



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