Prompt Detail:
- What is homocystinuria?
- Homocystinuria is a genetic disorder that is caused by defects in the metabolism of homocysteine, characterized by the accumulation of homocysteine and methionine in plasma and urine.
- What enzyme is deficient in homocystinuria?
- Homocystinuria is caused by deficiency of the enzyme cystathione p-synthase, which normally converts homocysteine to cystathione.
- How is homocystinuria inherited?
- Homocystinuria is inherited as an autosomal recessive disease.
- What are the symptoms of homocystinuria?
- The symptoms of homocystinuria include ectopia lentis, osteoporosis, mental retardation, skeletal abnormalities, and deep vein thrombosis.
- How is homocystinuria treated?
- Treatment for homocystinuria involves restriction of methionine intake and supplementation with vitamins B6, B12, and folate.
- What is alkaptonuria?
- Alkaptonuria is a rare metabolic disease caused by a deficiency of homogentisic acid oxidase, resulting in the accumulation of homogentisic acid in blood and urine.
- What are the three main features of alkaptonuria?
- The three main features of alkaptonuria are homogentisic aciduria, large joint arthritis, and ochronosis.
- What is homogentisic aciduria?
- Homogentisic aciduria is the presence of elevated levels of homogentisic acid in a patient's urine.
- What causes dark pigmentation of the cartilage and collagenous tissue in alkaptonuria?
- The accumulation of homogentisic acid causes pigmentation of the cartilage and collagenous tissue in alkaptonuria.
- How is alkaptonuria diagnosed in infants?
- Alkaptonuria can be diagnosed in infants through the dark staining of diapers after urinating.
- When do symptoms of alkaptonuria typically occur?
- Symptoms of alkaptonuria typically do not occur until around 40 years of age.
- What type of diet can help reduce levels of homogentisic acid in alkaptonuria?
- Diets low in protein, especially in phenylalanine and tyrosine, can help reduce levels of homogentisic acid in alkaptonuria.
- Can alkaptonuria be cured?
- There is no known cure for alkaptonuria.
- How is alkaptonuria treated?
- Treatment for alkaptonuria involves managing symptoms and preventing complications through regular monitoring and lifestyle modifications.
- What is the cause of alkaptonuria?
- Alkaptonuria is caused by a deficiency of the enzyme homogentisic acid oxidase.
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