Phenylalanine Metabolism

Descrição

Year 2 (Inborn Errors of Metabolism) FlashCards sobre Phenylalanine Metabolism, criado por gina_evans0312 em 05-04-2014.
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FlashCards por gina_evans0312, atualizado more than 1 year ago
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Criado por gina_evans0312 aproximadamente 10 anos atrás
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Resumo de Recurso

Questão Responda
Phenylalanine Hydroxylase- Reaction Phe --> Tyr
Phenylalanine Hydroxylase- Disease Caused Phenylketonurea
Phenylalanine Hydroxylase- Symptoms Irritability, feeding problems, vomiting
Phenylalanine Hydroxylase- Severe Symptoms Fits in the first few weeks - reduced life expectancy
Phenylalanine Hydroxylase- Brain/Neural Tissues Decreases energy production as pyruvate cannot enter mitochondria & pyruvate kinase is blocked
Phenylalanine Hydroxylase- Growth Issues Mental retardation as nervous system cannot form
Phenylalanine Hydroxylase- Melanin Fair hair, blue eyes, pale skin due to decrease melanin production
Phenylalanine Hydroxylase- Decreased Tyr Production Decreased CA production
Alkaptonuria Homogensic Acid Oxidase Deficiency
Alkaptonuira- Reaction Homogensic Acid --> 4-maleylacetoate
Alkaptonuira- Effect Homogensic acid builds up in the blood- acidosis
Alkaptonuira- Homogensic Acid Buildup HA becomes oxidised and forms alkaptones
Alkaptonuira- Symptoms None- possibly arthritis later in life
Alkaptonuira- Alkaline Conditions Speeds up alkaptone formation, urine turns black on standing
Tyrosinosis Tyrosine transanimase deficiency (very rare)
Treatment Low Phe, high Tyr diet

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