Creado por gina_evans0312
hace alrededor de 10 años
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Pregunta | Respuesta |
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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