Exam 1 - Amino Acidurias & Inborn Errors of Metabolism
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| At what two times are screenings initially performed for metabolic disorders after birth? | At 36 hours and 24 hours after the first protein meal.
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| What is the mechanism behind the "overflow" type of Aminoaciduria? | The level of amino acids within the plasma are above the renal threshold and therefore spill into the urine.
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| What is the mechanism behind the "no threshold" type of Aminoaciduria? | Plasma amino acid levels are normal but reabsorption abilities within the convoluted tubule are not sufficient.
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| What is the mechanism behind the "renal" type of Aminoaciduria? | There is an acquired or congenital kidney defect.
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| What is the major difference between Primary and Secondary Aminoaciduria? | Primary is specific to one amino acid while secondary involves several amino acids.
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| What is the enzyme responsible for the conversion of Phenylalanine to Tyrosine? | Phenylalanine Hydroxylase
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| Which disorder results from a deficiency or complete lack of Phenylalanine Hydroxylase? | Phenylketonuria (PKU)
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| PKU causes a buildup of what? | Phenylpyruvic acid and other metabolites.
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| What are the clinical signs of PKU? | Irreversible mental retardation and seizures
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| What is the treatment for PKU? | Dietary restrictions
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| What enzyme is responsible for the conversion of Tyrosine to PHPPA (p-hydrophenylpyruvic acid) | Tyrosine transaminase
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| What is the disease called that results from a deficiency or complete lack of Tyrosine transaminase? | Type II Tyrosinemia
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| What is the treatment of Tyrosinemia? | Dietary Restrictions
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| Alkaptonuria results from a deficiency or lack of which enzyme? | HGA Oxidase
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| What are the symptoms of Alkaptonuria? | Darkly colored urine, Degenerative Arthritis, Pigment in cartiledge of earlobe or eyeball.
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| What is the treatment of Alkaptonuria? | There are no treatments available for Alkaptonuria.
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| Which enzyme is responsible for the conversion of HGA to Maleylacetoacetic Acid? | HGA Oxidase
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| Homocysteinuria arises from which enzyme deficiency? | Cystathionine Beta Synthase (CBS)
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| What are some of the clinical symptoms of Homocystinuria? | Mental retardation, ocular detachment,skeletal and vascular effects, seizures, and tall/long limbs.
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| How do you treat Homocystinuria? | Treated with vitamins
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| The elevation of which enzyme is associated with increased risk of cardiovascular disease. | Homocystein
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| What is the treatment of Homocystinuria? | Pyridoxine and a low methionine diet.
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| What are the three possible end products after the metabolism of Leucine, Isoleucine, and Valine? | Acetyl-CoA, Succinyl-CoA, or Acetyl-CoA+Succinyl-CoA
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| If the decarboxylation reaction that metabolizes Leucine, Isoleucine, and Valine cannot occur, what disorder occurs? | Maple Syrup Urine Disease
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| What would you expect to find in a blood sample of a patient with MSUD? | Valine, Leucine, Isoleucine, and corresponding keto-acids.
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| What are the clinical symptoms of MSUD? | Acidosis, vomiting, and CNS disorders.
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| What is the treatment of MSUD? | Dietary restriction of leucine, isoleucine, and valine.
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| Which aminoaciduria is responsible for a musty-smelling urine? | PKU
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| Which aminoaciduris is responsible for a sweet smelling urine? | Maple Syrup Urine Disease
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| Cystinuria results from what? | The defect of the amino acid carrier for transport in the kidney.
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| What would you expect to find in the urine sample of a patient with cystinuria? | Dibasic Amino Acids: Lysine, ornithine, arginine, and cystein
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| What are the clinical findings associated with cystinuria? | Cysteine renal calculi.
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| What is the more common name for renal calculi? | Kidney stones
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| How is cystinuria treated? | By increasing fluid intake and keeping the urine alkaline
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| A defect in the transport of neutral amino acids results in what disease? | Hartnup Disease
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| What would you expect to find in the urine sample of a patient with Hartnup Disease? | All neutral Amino Acids
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| Pellagra-like dermatitis, neurological dermatitis, and psychiatric symptoms are all characteristic of which secondary aminoaciduria? | Hartnup Disease
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| What is the treatment of Hartnup Disease? | Adequate protein diet and nicotinamide
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| What are 3 glycogen storage diseases that result from inborn errors of metabolism in which babies can store glucose but cannot retrieve it? | 1. Von Gierkes Disease 2.Pompe's Disease 3. Anderson's Disease
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| Galactosemia is a disorder that arises when galactose is not able to be converted into what product? | Glucose
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| Galactosemia results from a cellular deficiency in which 2 possible enzymes? | Galactokinase or Galactose-1-phosphate uridine transferase
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| What are the clinical symptoms of galactosemia? | Growth retardation, cataract formation, hepatic failure, and possible death.
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| What would you expect to find in the blood sample of a patient with galactosemia? | Galactose
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| How many conditions are screened for in the newborn screening process in Texas? | 27 Conditions
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| At what times after birth are newborn screenings routinely performed? | At 36 hours and 24 hours after the first protein meal
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| A defect in Fumarylacetoacetic acid causes which aminoaciduria? | Type I Tyrosinemia
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