Following are the symptoms of several metabolic diseases of amino acid metabolis

Question

Following are the symptoms of several metabolic diseases of amino acid metabolism. Identify the name of the disease and the metabolic defect by dragging labels to the appropriate bins. Not all labels will be used. Appearance of branched-chain keto acids in the urine. Can lead to mental retardation. Appearance of phenylpyruvate and phenyllactate in the urine. Can lead to mental retardation. The urine contains a substance that turns black on standing. The condition is relatively benign. Appearance of methyl malonic acid in the urine. Can lead to mental retardation. Lack of pigmentation, white hair, pink skin.

Explanation / Answer

Answer:

1.A)

Apperance of branched-chain keto acids in the urine.can lead to mental retardation:

2.A)

Apperance of phenylpyruvate and phenyllactate in the urine:

3.A)

The urine contains a substance that turns black on standing:

4.A)

Apperance of methyl malonic acid in the urine:

5.A)

Lack of pigmentation,white hair,pink skin:

Disease name defevtive enzyme maple syrup urine disease branched chain alpha-keto acid dehydrogenase

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