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29 Cards in this Set
- Front
- Back
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All urea cycle disorders are autosomal recessive except ______ which is X-linked.
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ornithine transcarbamoylase- (OTC) deficiency
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In OTC deficiency, patients present w/ elevated blood ammonia and increased urinary _______.
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orotic acid; excess carbamoyl phosphate→orotic acid; Glutamine, Alanine, and Ornithine levels may also be elevated.
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What are the treaments for urea cycle disorder?
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liver transplant, low protein diet, gene therapy
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Albinism is due to a deficiency of_____
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tyrosinase; Tyrosine → Dopa → Melanin
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phenylalanine metabolism:
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phenylalanine
↓ tyrosine ↓ homogentisate ↓ fumurate + acetoacetate |
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Phenylketonuria (PKU) is a deficiency of _______, an enzyme which catalyzes the conversion of phenylalanine to ______.
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phenyalanine hydroxylase, tyrosine
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Patients w/ PKU have accumulation of _______ and deficiency of ________.
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phenyalanine, tyrosine
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All states require newborn ____ screening because it is the most common AA metabolism disorder.
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PKU
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Kuvan
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synthetic tetrahydrobiopterin
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Tetrahydrobiopterin
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cofactor for phenylalanine hydroxylase
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Alkaptonuria
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homogentisate oxidase deficiency
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homogentisate oxidase
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homogentisate
↓ fumarate + acetoacetate |
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What accumulates in Alkaptonuria?
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homogentisate
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Why do alkaptonuric urine samples darken?
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homogentisate is oxidized upon contact with air.
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When does alkaptonuria usually occur?
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later in life; arthirits develops and collagen darkens
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What is the treatment for Alkaptonuria?
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restrict phenylalanine and tyrosine in the diet
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α-ketoacid dehydrogenase deficiency is also known as_____.
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MUSD- maple syrup urine disease
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MSUD is a deficiency in metabolizing ______.
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branched chain AAs
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MSUD is often seen in _____ populations.
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Amish and Mennonite
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What are the branched chain AAs?
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valine, isoleucine and leucine
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How is MSUD diagnosed?
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leucine presence in blood
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Is MSUD screened for in newborns?
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yes
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How are newborns with MSUD treated?
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fed synthetic formula w/ limited branched chain AAs; lifelong dietary treatment is required
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methionine & cysteine metabolism:
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methionine*
↑ homocysteine* ↓ cystathionine ↓ cysteine *methionine→SAM→SAH→homocysteine |
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met synthase
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homocysteine→methionine
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cystathionine synthase
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homocysteine→cystathionine
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Patients w/ homocystinuria have elevated homocysteine and ______ in the urine.
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methionine
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What is the most common cause of homocystinuria?
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cystathionine synthase deficiency
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Treatment for homocystinuria in less severe cases includes supplementation of ___,___ and ____ along with _____ restriction.
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B6, B12, Folate, methionine restriction
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