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发表于 2023-7-2 14:07:14
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Tyler, Yespas, Ugolf and Myxir Ecuador
This abnormality has been mapped to a defect within the nephrin gene on chromosome 19q13. The family could be very concerned about opposed results and does not consider that the treatment is critical. Symptoms: mental retardation, bodily disability, metabolic acidosis (because of vomiting and dehydration associated with this illness) Treatment: Limited consumption of leucine, isoleucine and valine Albinism: As talked about above Tyrosine tyrosinase melanin (a pigment of hair, pores and skin and eyes) Melanin biosynthesis: Defected tyrosinase absent melanin albino affected person Hair and skin seem white Defected vision, photophobia *high threat of skin cancer Homocystinuria: defects in homocysteine metabolism: Cystathionine b-synthase Homocysteine Cystathione Deficiency of cystathionine b-synthase High plasma and urine levels of homocysteine and methionine Homocysteine is a threat issue for atherosclerosis and heart disease Skeletal abnormalities, osteoporosis, mental retardation, displacement of eye lens вectopialensisв Neural tube defect (spina bifida) this result from Deficiency of: Vascular disease (atherosclerosis) вTetrahydrofolate Heart illness вMethioninesynthase Treatment: вVitamin B6, B12 Oral administration of vitamins B6,B12 and folate вFolic acid Vitamin B6 is a cofactor for cystathionine b-synthase Methionine-restricted diet Alkaptonuria A rare illness of tyrosine degradation Due to deficiency of homogentisic acid oxidase this enzyme is required during the late stages of tyrosine degradation pathway Homogentisic acid is accumulated in tissue and cartilage?arthritis Homogentisicaciduria: elevated homogentisic acid in urine oxidized to dark urine over time And black pigmentation of cartlidge this is normally asymptomatic till maturity with arthritis as the principle criticism acute hiv infection symptoms rash cheap 5 mg medex with amex. |
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