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19 Cards in this Set
- Front
- Back
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What are the essential glocogenic, glucogenic/ketogenic amino acids and ketogenic amino acids?
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Glucogenic: Met, Val, Arg, His
Glucogenic/Ketogenic: Ile, Phe, Thr, Trp. Ketogenic: Leu, Lys |
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Acid AA's?
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Asp and Glu
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Basic AAs?
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Arg, Lys and His.
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What are the signs of ammonia intoxication?
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Tremor, slurring of speech, somnolence, vomiting, cerebral edema and blurring of vision.
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Most common urea cycle disorder. X-linked recessive. Interferes with the body's ability to eliminate ammonia. Often evident in the first few days of life, but may present with late onset. Excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidine synthesis pathway).
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OTC (ornithine transcarbamoylase deficiency.
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What are the findings of ornithine transcarbamoylase (OTC) deficiency?
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Orotic acid in blood and urine, decreased BUN symptoms of hyperammonemia.
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What is the major defect in phenylketonuria?
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Decrease in phenylalanine hydroxylase or decrease in tetrahydrobiopterin cofactor. Tyrosine becomes essential.
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What are the findings of phenylketonuria?
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Mental retardation, growth retardation, sezuires, fair skin, eczema and musty body odor.
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What is the mode of inheritance and prevalance of PKU?
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AR 1:10,000
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Congenital deficiency of homogentisic acid oxidase in the degenrative pathway of tyrosine.
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Alkaptonuria (ochronosis)
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Findings of Alkaptonuria (ochronosis)?
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Findings of dark connective tissue, pigemented sclera, urine turning black on standing. May have debilitating arthralgias.
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What is the mode of inheritance of alkaptonuria?
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AR
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What are the congenital defects of albinism?
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Deficiency of tyrosine (inability to synthesize melanin) or defective tyrosine transporters (decreasing amounts of tyrosine and thus melanin)
Can result from a lack of migration of neural crest cells |
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What are the three forms of cystinuria?
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1. Cystathionine synthase deficiency
2. Decreased affinity of cystathionine synthase for pyridoxal phosphate 3. Homocysteine methyltransferase deficiency |
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What are the findings of homocystinuria?
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Increased homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward) and atherosclerosis (stroke and MI).
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What is cystinuria caused by and what are the complications?
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A hereditary defect of renal tubular amino acid transporter for cysteine, ornithine and lysine, and arginine in the PCT of the kidneys. May lead to cystine kidney stones (cystine staghorn calculi)
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What is the MOI of cystinuria and prevelance? what is the trx?
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AR common at 1:7000. TRX is acetazolamide to alkalinize the urine.
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What is the main problem in maple syrup urine disease?
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Blocked degradation of branched amino acids (Ile, Leu, Val) due to a decrease in alpha-ketoacid dehydrogenase. This causes an increase in alpha-ketoacids in the blood, especially Leu. This may cause severe CNS defects, mental retardation and death.
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What is hartnup disease?
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An autosomal- recessive disorder characterized by defective neutral amino acid transporter on renal and intestinal epithelial cells. This causes tryptophan excretion in urine and absorption from the gut. This leads to pellagra.
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