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 |