What is aminoaciduria?
aminoaciduria is a condition in which there is excessive amount of amino acids in urine due to genetic defects in the paths of amino acid metabolism. The lack of enzyme, which results in an amino acid metabolism defect, is referred to as primary aminoaciduria. Molecular transporters responsible for transport and amino acid absorption are classified as secondary aminoaciduria. Both types of aminoaciduria can be inherited, mostly in an autosomal recessive pattern, but some may be obtained secondary to several diseases such as hyperparatyroidism, multiple myeloma, osteomalacia, terraces and viral hepatitis. Alkaptonuria. Classical phenylketonuria is characterized by increased concentration of phenylalanine and its by -products in tissues, plasma and urine due to lack of phenylalanine hydroxylase. The characteristic finding of the -classic phenylketonuria in an untreated child involves mental retardation, the inability to achieve early developmental milestones, microcephams, hypopigmentation toIt can and hair, seizures, tremor, hyperactivity and growth. The prevention of these findings in the child may be made by early diagnosis and the start of dietary treatment 3 weeks ago.
Classical homocystinuria is characterized by increased concentration of homocysteine and methionine and reduced cysteine concentration in plasma and urine. This is the result of reduced cysthionin beta-synthase activity. They were influenced by individuals present in shifting optical lenses known as lentis ectopia, mental retardation, skeletal abnormalities, osteoporosis and premature arterial disease. Treatment consists of dietary limitation of protein and methionine and replenishment of vitamins B 6 , b 12 , and folate.
alkaptonuria is characterized by an increased concentration of homogentisic acid in urine and connective tissue due to a lack of oxidase of homogentis acid. Disabled individuals are generally asymptomatic until they are not in their 30 nobo 40 years old. Three characteristic symptoms of alkaptonuria are the presence of dark urine, large joint arthritis and darkening of the ears and other cartilage and collagen tissues. Prevention of long -term complications can be performed by limiting protein diet, especially in phenylalanine and tyrosine, along with the use of nitisone medicine.
Some common examples inherited secondary aminoaciduria are cystinuria, dibasical aminoaciduria and Hartnup's disease. Cystinuria due to the defect of the transporter in the kidneys and the small intestine is characterized by impaired reabsorption and excessive excretion of dibasic amino acids cystin, arginine, lysine and ornithine in the urine. Poor solubility of cystine predisposes to the formats of stone renal, ureteral and bladder, which can lead to kidney failure. The aim of the treatment is to prevent the formation of a stone lifelong alkaline diuresis. Depending on the presentation of the affected individuals, the use of penicillamine and topronin, lithotrips shock wool, ureteroscopy, percutNordual nephrolithotomy or open urological surgery.
Dibasic aminoaciduria is characterized by selective defect in reabsorption of arginine, lysine and ornithine. Disabled individuals may show enlarged liver, protein intolerance, hyperammemia, renal impairment, severe osteoporosis or structural changes in the lungs. The treatment consists of restrictions in the protein diet and the refilling of citrulin.
Hartnup disease is characterized by variable neurological manifestations such as cerebellar ataxia or delirium, accompanied by skin lesions similar to pellagra. This is due to a defect in the transporter located in the kidneys and intestines, resulting in increased alanine, threonin, leucine, isoleucine, asparragine, glutamine, histidine, serine, tyrosine, valin, tryptophan and phenylalanine. Treatment includes high protein diet and nicotinamide supplementation.