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Symptoms: psychological retardation, bodily incapacity, metabolic acidosis (as a result of vomiting and dehydration related to this disease) Treatment: Limited consumption of leucine, isoleucine and valine Albinism: As talked about above Tyrosine tyrosinase melanin (a pigment of hair, skin and eyes) Melanin biosynthesis: Defected tyrosinase absent melanin albino patient Hair and skin appear white Defected vision, photophobia *high risk of skin most cancers Homocystinuria: defects in homocysteine metabolism: Cystathionine b-synthase Homocysteine Cystathione Deficiency of cystathionine b-synthase High plasma and urine ranges of homocysteine and methionine Homocysteine is a risk issue for atherosclerosis and coronary heart disease Skeletal abnormalities, osteoporosis, mental retardation, displacement of eye lens “ectopialensis” Neural tube defect (spina bifida) this outcome from Deficiency of: Vascular illness (atherosclerosis) •Tetrahydrofolate Heart illness •Methioninesynthase Treatment: •Vitamin B6, B12 Oral administration of nutritional vitamins B6,B12 and folate •Folic acid Vitamin B6 is a cofactor for cystathionine b-synthase Methionine-restricted food plan Alkaptonuria A uncommon illness of tyrosine degradation Due to deficiency of homogentisic acid oxidase this enzyme is required through the late stages of tyrosine degradation pathway Homogentisic acid is accumulated in tissue and cartilage?arthritis Homogentisicaciduria: elevated homogentisic acid in urine oxidized to darkish urine over time And black pigmentation of cartlidge that is normally asymptomatic till adulthood with arthritis as the main grievance. 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