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Adv. Clinical Chem

Exam 1 - Amino Acidurias & Inborn Errors of Metabolism

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