Term
| If a patient presents with increased levels of homocysteine and methionine, what disorder might they be suffering from? |
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Definition
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Term
| What nitrogen metabolism disorder is often linked with cardiovascular complications? Why? |
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Definition
| Homocysteinuria. Increased levels of homocysteine cause cardiovascular problems |
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Term
| What nitrogen metabolism disorder is associated with problems breaking down branched chain amino acids? |
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Definition
| Alpha ketoacid dehydrogenase deficiency or maple syrup urine disease. |
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Term
| Leucine in the blood would indicate what? |
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Definition
| MSUD aka alpha ketoacid dehydrogenase deficiency. |
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Term
| What condition is associated with accumulation of homogentisate in the urine? |
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Definition
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Term
| What must be restricted in the diet of a patient with alkaptonuuria? |
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Definition
| Tyrosine and phenyalanine |
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Term
| What disorder is associated with darkening of the collagen, and arthritis later in life? |
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Definition
| Alkaptonuria--due to homogentisate oxidase deficiency leading to a build up of homogentisate. |
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Term
| Phenylalanine, phenylacetate, and phenylpyruvate in the urine and plasma indicate what disorder? |
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Definition
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Term
| Phenylketonuria is caused by what? |
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Definition
| Phenylalanine hydroxylase deficiency. |
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