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3 Cards in this Set
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Phenylketonuria
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deficiency in tyrosine due to disfunction of phenylalanine hydroxylase. Results in Elevated phenylalanine which leads to PKU: mental retardation, failure, to walk or talk, seizures, microcephaly, and etc. All due to failure of melanin production, pigmentation is lost. L-DOPA , BH4, and sometimes tyrosine is given as treatment. Low diet of Phenylalanine.
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Maple Syrup Urine Disease
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Deficiency in alpha-keto acid dehydrogenase. Leads elevated blood levels of Leucine, isoleucine, valine, and their corresponding keto acids. Symptoms: vomiting, dehydration, severe metabolic acidosis, and maple syrup urine. Results in Mental retardation and death.
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Albinism
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Defect in tyrosine metabolism resulting in defficiency of melanin production.
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