Urine Screening for Metabolic Disorders

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Metabolic urine screening quiz

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Oj Garcia

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Urine Screening for Metabolic Disorders


Froggy Jumps Urine Screening for Metabolic DisordersOnline version Metabolic urine screening quiz by Oj Garcia 1 PKU is caused by a deficiency of which enzyme leading to high phenylalanine levels? a Phenylalanine hydroxylase b Tyrosine aminotransferase c Phenylalanine ammonia-lyase 2 What is a classic newborn screening test for PKU known as? a PCR test b Karyotyping c Guthrie test 3 Which test uses Bacillus subtilis to detect phenylalanine in blood for PKU? a Ferric chloride urine test b Clinitest c Guthrie bacterial inhibition test 4 Urine phenylpyruvic acid is detected using which reagent? a Clinitest b Ferric chloride c Benedict's solution 5 Tyrosyluria results from defects in tyrosine metabolism. Which condition is it associated with? a Phenylketonuria b Alkaptonuria c Tyrosinemia 6 Which type of tyrosinemia produces renal tubular disorder and early renal failure? a Type 2 tyrosinemia b Type 1 tyrosinemia c Type 3 tyrosinemia 7 Which test is used to screen for tyrosinemia? a Fecal occult blood b Sudan III stain c Nitro-naphthol test 8 Melanuria can indicate which serious condition if seen in urine after air exposure? a Melanocytic nevus b Basal cell carcinoma c Malignant melanoma 9 Which screening tests detect porphyrinuria? a Clinitest b Ferric chloride test c Ehrlich reaction and UV fluorescence 10 Alkaptonuria is due to deficiency of which enzyme? a Tyrosine hydroxylase b Phenylalanine hydroxylase c Homogentisic acid oxidase 11 What color change does the ferric chloride test produce in alkaptonuria screening? a Green color b Blue color c Red color 12 Maple Syrup Disease (MSUD) involves which three amino acids? a Alanine, Glycine, Serine b Leucine, Isoleucine, Valine c Phenylalanine, Tyrosine, Tryptophan 13 MSUD screening uses which reagent to detect keto acids in urine? a Ninhydrin b DNPH (2,4-dinitrophenylhydrazine) c Benedict's reagent 14 Which odor is characteristic of MSUD urine? a Rotten egg odor b Sweet vanilla odor c Maple syrup odor 15 Isovaleric acidemia in organic acidemias is noted for what urine odor? a Burnt sugar odor b Sweaty feet odor c Wine-like odor 16 Isovaleric acidemia results from deficiency in which enzyme? a Isovaleryl-CoA dehydrogenase b Propionyl-CoA carboxylase c Methylmalonyl-CoA mutase 17 Which urine test can show emerald green with methylmalonic acid? a Clinitest b p-nitroline test c Seliwanoff’s test 18 Which disorder causes blue diaper syndrome due to indicanuria? a Wilson disease b Cystinuria c Hartnup disease 19 5-Hydroxyindolacetic acid (5-HIAA) elevation indicates which condition? a Argentaffin cell tumors b Neuroblastoma c Carcinoid without metastasis 20 What reduces urine to detect homocystinuria? a Cyanide nitroprusside test b Sodium nitroprusside test c Seliwanoff’s test 21 Screening for homocystinuria may require a confirmatory silver nitroprusside test to detect what? a Cystine b Methionine c Homocystine 22 Cystinuria is characterized by high levels of which amino acid in urine? a Tyrosine b Tryptophan c Cystine 23 Which chemical test detects cystine in urine? a Clinitest b Benedict’s test c Cyanide-nitroprusside test 24 Cystinosis primarily affects which organ system showcase? a Lungs b Kidneys (nephropathic) c Brain 25 Which disorder involves progressive renal failure in infancy due to cystine buildup? a Non-nephropathic cystinosis b Nephropathic cystinosis c Cystinosis with hepatic involvement 26 Which amino acid disorder can cause mental retardation if untreated and is autosomal recessive? a Homocystinuria b Maple Syrup Disease c Phenylketonuria 27 Hartnup disease is associated with what urinary finding? a Indicanuria b Alkaptonuria c Cystinuria 28 Which screening test is used for lead poisoning detection via erythrocyte protoporphyrin? a Ferric chloride test b Clinitest c FEP (free erythrocyte protoporphyrin) analysis 29 Which disorder is linked to blue-staining diaper and indicanuria? a Maple Syrup Disease b Alkaptonuria c Hartnup disease 30 Porphyrin disorders involve which major biological molecule? a Heme b Keratin c Collagen 31 Which two screening tests help detect porphyrinuria? a Ehrlich reaction and UV fluorescence b Clinitest c Ferric chloride test 32 Which condition is the historical example described by Garrod in 1902? a Hartnup disease b PKU c Alkaptonuria 33 Which test erects a blue color for alkaptonuria screening besides ferric chloride? a Benedict’s test b Alkalinization of fresh urine c Clinitest 34 What is the common name for elevated phenylalanine in PKU that leads to diet restriction? a Phenylalanine accumulation b Tyrosine excess c Tryptophan accumulation 35 Which disorder is defined by failure to hydroxylate phenylalanine to tyrosine? a Phenylketonuria b Maple Syrup Disease c Cystinuria 36 Which test confirms positive PKU screening beyond initial tests? a Karyotype b High performance liquid chromatography (HPLC) c ELISA 37 Which urine test color indicates a positive phenylpyruvic acid test? a Red color with Benedict’s b Blue-green color with ferric chloride c Yellow with Clinitest 38 Which disorder shows a blue-black ferric chloride result in urine screening? a Indicanuria b Melanuria c Isovaleric acidemia 39 Which disorder is classic for a maple syrup odor in urine? a Isovaleric acidemia b Maple Syrup Urine Disease c Phenylketonuria 40 Which amino acids are affected in MSUD, and what inheritance pattern? a Phenylalanine, Tyrosine; X-linked b Methionine, Cystine; autosomal dominant c Leucine, Isoleucine, Valine; autosomal recessive 41 Which disorder presents with a blue diaper sign and can be Tx with diet change? a Hartnup disease b Alkaptonuria c Cystinuria 42 Which test is used to screen for methylmalonic acid in organic acidemias? a Benedict’s test b p-nitroline test c Clinitest 43 Which disorder is known for kidney stones and positive cyanide nitroprusside test? a Homocystinuria b Cystinuria c Hartnup disease 44 Which disorder involves ocular and skeletal manifestations due to methionine metabolism defect? a Porphyrias b Hartnup disease c Homocystinuria 45 Which screening method uses a urine sample to detect tyrosine crystals in cells? a Alkaptonuria screening b Tyrosinemia screening c PKU screening 46 Which condition can lead to darkened urine upon standing due to oxidation? a Alkaptonuria b Melanuria c Isovaleric acidemia 47 Which disorder features a positive Benedict’s test for urine? a Alkaptonuria b Cystinuria c Porphyria 48 Which disorder is characterized by lack of enzyme FAH in tyrosinemia types? a Type 1 tyrosinemia b Type 3 tyrosinemia c Type 2 tyrosinemia 49 Which test uses ferric chloride to show a blue-green color for PKU confirmation? a Benedict’s test b Urine phenylpyruvic acid test c Sodium nitroprusside test 50 Which disorder is linked to a mousy odor in newborn urine? a Cystinuria b Hartnup disease c Phenylketonuria 51 Which disorder’s screening is typically done after 24 hours of life in newborns? a PKU b Alkaptonuria c Isovaleric acidemia 52 Which condition causes urine darkening when alkaline, known historically? a Porphyria b Alkaptonuria c Melanuria 53 Which amino acid disorder can be detected by a sweaty feet odor in urine? a Isovaleryl-CoA dehydrogenase deficiency b Tyrosinemia c Isovaleric acidemia 54 Which test detects ALA and porphobilinogen via Ehrlich reaction? a Ferric chloride b Porphyrin screening c Clinitest 55 Which metabolite is a screening marker for lead poisoning? a Free erythrocyte protoporphyrin (FEP) b Clinitest c 5-HIAA 56 Which disorder is associated with a blue diaper syndrome and indicanuria? a Cystinuria b Maple Syrup Disease c Hartnup disease 57 Which test demonstrates a red color in sodium nitroprusside method for homocystinuria? a Cyanide nitroprusside test b Clinitest c Silver nitroprusside test 58 Which condition is screened by detecting homogentisic acid buildup in tissues? a Porphyria b Alkaptonuria c Maple Syrup Disease 59 Which disorder shows a urine color change to blue with ferric chloride in screening? a Melanuria b Alkaptonuria c Hartnup disease 60 Which disorder is a classic example of an autosomal recessive branched-chain amino acid disorder? a Cystinuria b Phenylketonuria c Maple Syrup Disease 61 Which disorder features a brown pigment deposition and potential arthritis? a Alkaptonuria b Homocystinuria c Melanuria 62 What is the main screening test for porphyrin disorders that fluoresces under UV? a UV fluorescence (550-600 nm) b Clinitest c Ferric chloride test 63 Which condition is linked to elevated urinary cystine crystals? a Cystinuria b Hartnup disease c Alkaptonuria 64 Which test confirms cystinuria by reducing cystine and adding nitroprusside? a Benedict’s test b Cyanide nitroprusside test c Clinitest 65 Which disorder is sensitive to blood diurnal secretion and can cause corneal lesions? a MSUD b PKU c Tyrosinemia Type 2 66 Which condition is the historical name for urine darkening upon standing due to oxidation? a Porphyria b Alkaptonuria c Cystinuria 67 Which disorder is tested with ferric chloride and Benedict’s test in screenings? a Isovaleric acidemia b Melanuria c Alkaptonuria 68 Which amino acids are implicated in tyrosinemia Type 1 pathway blockage? a Leucine b Phenylalanine c Tyrosine 69 Which disorder is associated with a positive bead on Bacillus subtilis culture? a PKU (Guthrie test positive) b Hartnup disease c Isovaleric acidemia 70 Which screening test for PKU yields blue-green color with urine? a Ferric chloride test b Ninhydrin c Clinitest 71 Which condition can cause dark urine after air exposure due to pigment isolation? a Hartnup disease b Porphyrin disorders c Cystinuria 72 Which disorder involves a defect in the enzyme tyrosine aminotransferase? a Type 2 tyrosinemia b PKU c Type 1 tyrosinemia 73 Which disorder is characterized by a ‘blue diaper’ diaper syndrome finding? a Hartnup disease b Hartnup syndrome c Cystinuria 74 Which screening method is used to detect methylmalonic acid in urine? a Clinitest b p-nitroline test c Benedict’s test 75 Which condition is linked to a positive cyanide nitroprusside test? a Hartnup disease b Cystinuria c Homocystinuria 76 Which disorder’s odor can be used as a diagnostic clue in newborns? a PKU b Hartnup disease c Alkaptonuria 77 Which test is used to confirm abnormal phenylalanine levels in PKU? a Western blot b High-performance liquid chromatography c ELISA 78 Which disorder involves a defect in homogentisic acid metabolism? a Isovaleric acidemia b Tyrosinemia c Alkaptonuria 79 Which disorder is associated with corneal erosions due to tyrosine accumulation? a Type 2 tyrosinemia b Hartnup disease c Maple Syrup Disease 80 Which disorder shows a red color with Ehrlich reaction for ALA/porphobilinogen? a Porphyrin disorders b Alkaptonuria c Cystinuria 81 Indicanuria is a feature of which disorder? a Isovaleric acidemia b Holoprosencephaly c Hartnup disease 82 Which disorder involves crystals in urine due to tyrosine crystals? a PKU b Alkaptonuria c Tyrosinemia 83 Which test is used for screening lead exposure in blood? a Clinitest b Free erythrocyte protoporphyrin (FEP) c Ferric chloride test 84 What is a key feature of Hartnup disease in urine analysis? a Cystinuria b Indicanuria c Melanuria 85 Which disorder is described as an inherited porphyria with red urine after air exposure? a Hartnup disease b Melanuria c Porphyrin disorders 86 Which amino acid disorder is screened by checking for maple syrup odor? a PKU b MSUD c Cystinuria 87 Which metabolic disorder is associated with the term ‘alkali lover’? a Alkaptonuria b Hartnup disease c Porphyria 88 Which test helps confirm porphyrinuria by UV fluorescence in 550-600 nm? a Clinitest b Ferric chloride test c Porphyrin screening 89 Which disorder can cause methionine accumulation leading to thromboembolic events? a Homocystinuria b Hartnup disease c Isovaleric acidemia 90 Which condition is linked to a blue diaper sign and metabolic screening? a Hartnup disease b Melanuria c Cystinuria 91 Which disorder’s screening involves a blue-green color with ferric chloride in urine? a Porphyria b Alkaptonuria c PKU screening (phenylpyruvic acid) 92 Which test is used to detect urinary 5-HIAA in suspected carcinoid tumors? a Clinitest b 5-Hydroxyindolacetic acid test c Benedict’s test 93 Which disorder is a classic example of an autosomal recessive amino acid disorder with a maple odor? a Homocystinuria b MSUD c Cystinuria 94 Which disorder can present with renal failure and cystine crystals in urine? a Alkaptonuria b Cystinuria c Hartnup disease 95 Which screening test detects homogentisic acid accumulation in blood/tissues? a MSUD screening b Alkaptonuria screening c Porphyrin screening 96 Which disorder is characterized by urinary tyrosine crystals and is inherited? a PKU b Tyrosinemia Type 1 c Hartnup disease 97 Which screening method uses a blue-green color in urine with ferric chloride for PKU? a Phenylpyruvic acid test b Sodium nitroprusside test c Clinitest 98 Which malady is described as a mousy odor in newborn PKU? a Isovaleric acidemia b PKU c Hartnup disease 99 Which disorder has a well-known syndrome where urine darkens on standing due to alkaline pH? a Alkaptonuria b Porphyria c Melanuria 100 Which test confirms tyrosinemia by detecting tyrosine crystals in urine? a MSUD screening b Tyrosinemia screening c Isovaleric acidemia screening 101 Which disorder is described as a rare branched-chain amino acid disorder with autosomal recessive inheritance? a PKU b MSUD c Homocystinuria 102 Which test is used to detect indicanuria in urine? a Benedict’s test b Clinitest c Ferric chloride test (blue color)

Urine Screening for Metabolic Disorders

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Urine Screening for Metabolic DisordersOnline version

by Oj Garcia

PKU is caused by a deficiency of which enzyme leading to high phenylalanine levels?

What is a classic newborn screening test for PKU known as?

Which test uses Bacillus subtilis to detect phenylalanine in blood for PKU?

Urine phenylpyruvic acid is detected using which reagent?

Tyrosyluria results from defects in tyrosine metabolism. Which condition is it associated with?

Which type of tyrosinemia produces renal tubular disorder and early renal failure?

Which test is used to screen for tyrosinemia?

Melanuria can indicate which serious condition if seen in urine after air exposure?

Which screening tests detect porphyrinuria?

Alkaptonuria is due to deficiency of which enzyme?

What color change does the ferric chloride test produce in alkaptonuria screening?

Maple Syrup Disease (MSUD) involves which three amino acids?

MSUD screening uses which reagent to detect keto acids in urine?

Which odor is characteristic of MSUD urine?

Isovaleric acidemia in organic acidemias is noted for what urine odor?

Isovaleric acidemia results from deficiency in which enzyme?

Which urine test can show emerald green with methylmalonic acid?

Which disorder causes blue diaper syndrome due to indicanuria?

5-Hydroxyindolacetic acid (5-HIAA) elevation indicates which condition?

What reduces urine to detect homocystinuria?

Screening for homocystinuria may require a confirmatory silver nitroprusside test to detect what?

Cystinuria is characterized by high levels of which amino acid in urine?

Which chemical test detects cystine in urine?

Cystinosis primarily affects which organ system showcase?

Which disorder involves progressive renal failure in infancy due to cystine buildup?

Which amino acid disorder can cause mental retardation if untreated and is autosomal recessive?

Hartnup disease is associated with what urinary finding?

Which screening test is used for lead poisoning detection via erythrocyte protoporphyrin?

Which disorder is linked to blue-staining diaper and indicanuria?

Porphyrin disorders involve which major biological molecule?

Which two screening tests help detect porphyrinuria?

Which condition is the historical example described by Garrod in 1902?

Which test erects a blue color for alkaptonuria screening besides ferric chloride?

What is the common name for elevated phenylalanine in PKU that leads to diet restriction?

Which disorder is defined by failure to hydroxylate phenylalanine to tyrosine?

Which test confirms positive PKU screening beyond initial tests?

Which urine test color indicates a positive phenylpyruvic acid test?

Which disorder shows a blue-black ferric chloride result in urine screening?

Which disorder is classic for a maple syrup odor in urine?

Which amino acids are affected in MSUD, and what inheritance pattern?

Which disorder presents with a blue diaper sign and can be Tx with diet change?

Which test is used to screen for methylmalonic acid in organic acidemias?

Which disorder is known for kidney stones and positive cyanide nitroprusside test?

Which disorder involves ocular and skeletal manifestations due to methionine metabolism defect?

Which screening method uses a urine sample to detect tyrosine crystals in cells?

Which condition can lead to darkened urine upon standing due to oxidation?

Which disorder features a positive Benedict’s test for urine?

Which disorder is characterized by lack of enzyme FAH in tyrosinemia types?

Which test uses ferric chloride to show a blue-green color for PKU confirmation?

Which disorder is linked to a mousy odor in newborn urine?

Which disorder’s screening is typically done after 24 hours of life in newborns?

Which condition causes urine darkening when alkaline, known historically?

Which amino acid disorder can be detected by a sweaty feet odor in urine?

Which test detects ALA and porphobilinogen via Ehrlich reaction?

Which metabolite is a screening marker for lead poisoning?

Which disorder is associated with a blue diaper syndrome and indicanuria?

Which test demonstrates a red color in sodium nitroprusside method for homocystinuria?

Which condition is screened by detecting homogentisic acid buildup in tissues?

Which disorder shows a urine color change to blue with ferric chloride in screening?

Which disorder is a classic example of an autosomal recessive branched-chain amino acid disorder?

Which disorder features a brown pigment deposition and potential arthritis?