Amino Acid Metabolism

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Amino Acid Metabolism conditions

AlkaptonuriaAlkaptonuria is a rare metabolic disorder causing homogentisic acid buildup, leading to dark urine and ochronosis due to homogentisate oxidase deficiency.CystinuriaCystinuria is a genetic disorder causing defective renal reabsorption of cystine and other dibasic amino acids, leading to recurrent cystine kidney stones.Hartnup DiseaseHartnup Disease is a genetic disorder causing defective neutral amino acid transport in kidneys and intestines, leading to pellagra-like symptoms and aminoaciduria.HomocystinuriaHomocystinuria is a metabolic disorder caused by cystathionine beta-synthase deficiency, leading to elevated homocysteine and thromboembolism risk.Maple Syrup Urine Disease (MSUD)Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by defective branched-chain alpha-keto acid dehydrogenase, leading to toxic amino acid buildup.Phenylketonuria (classic PKU)Phenylketonuria (classic PKU) is a genetic disorder causing phenylalanine buildup due to PAH deficiency, leading to intellectual disability if untreated.Phenylketonuria (Tetrahydrobiopterin (BH4) Deficiency)Phenylketonuria with BH4 deficiency impairs neurotransmitter synthesis due to tetrahydrobiopterin shortage, causing hyperphenylalaninemia and neurological symptoms.

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