Phenylalanine Metabolism

Question	Answer
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

Resource summary

	Created by gina_evans0312 about 10 years ago