Help
Options
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't Know
Remaining cards (0)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Adv. Clinical Chem
Exam 1 - Amino Acidurias & Inborn Errors of Metabolism
| Question | Answer |
|---|---|
| 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
Popular Laboratory Science sets