Urine Screening for Metabolic Disorders Flashcards by vnlla babe

Two types of aminoaciduria

Overflow type
Renal type

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Increase Amino acid in blood
Increase Amino acid in urine
Ex. PKU, MSUD

Overflow type

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Normal Amino acid in blood
Increase Amino acid in urine
*defect in tubular reabsorption
Ex. Cystinuria, Fanconi’s syndrome

Renal type

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for identifying metabolism disorder.
for early detection and treatment

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Newborn Screening Tests RA #______

9288

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Newborn Screening Tests is done after

24 hrs of life

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Newborn Screening Tests: massage the _____ of the baby for _______ and prick on the ______.

Heel
3 minutes
Side of the heel

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well known aminoacidurias
(-) gene that codes for Phenylalanine hydroxylase

Phenylketonuria

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Phenylketonuria clinical manifestations: (2)

• Mousy urine odor
• May lead to severe mental retardation

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Phenylketonuria screening tests results:
• FeCl3 tube test:
• Phenistix strip:
• Guthrie bacterial inhibition test:
*B. subtilis is cultured with _______

• FeCl3 tube test: (+) blue-green color
• Phenistix strip: (+) gray to gray-green
• Guthrie bacterial inhibition test: (+) growth
*B. subtilis is cultured with β-2-thienylalanine

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Confirmatory test for phenylketonuria

Ion exchange HPLC (High Performance Liquid Chromatography)

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Tyrosyluria/Tyrosinemia Clinical manifestations:

• Rancid butter urine odor
• Tyrosine and Leucine crystals in urine (SEVERE LIVER DISEASE)

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Tyrosyluria/Tyrosinemia
(-) gene that codes for:
Type 1:
Type 2:
Type 3:

Type 1: Fumarylacetoacetate hydrolase (FAH)
Type 2: Tyrosine aminotransferase
Type 3: p-hydroxyphenylpyruvic acid dioxygenase

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Tyrosyluria/Tyrosinemia screening tests result:

FeCl3 tube test:
Nitroso-naphthol:

FeCl3 tube test: (+) transient green
Nitroso-naphthol: (+) orange-red

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Tyrosyluria/Tyrosinemia Confirmatory tests: Confirmatory tests (2)

Chromatography
Quantitative serum assay of tyrosine

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(-) gene that codes for Homogentisic acid oxidase
Urine darkens after becoming alkaline from standing at room temperature
• Brown or black stained cloth diapers • Reddish stained disposable diapers

ALKAPTONURIA

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ALKAPTONURIA Clinical manifestations:

Dark blue to black pigmentation of cartilage and connective tissues & liver

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ALKAPTONURIA screening test result:
• FeCl3 tube test:
• Clinitest:
_______ of fresh urine

• FeCl3 tube test: (+) transient blue
• Clinitest: (+) yellow precipitate
Alkalinization of fresh urine

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Confirmatory Tests for alkaptonuria

• Paper/thin-layer chromatography
• Capillary electrophoresis

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Caused by melanoma (tumor involving melanocytes)

Tumors secrete _________, which oxidizes to melanogen then to melanin

Urine darkens upon ________

Melanuria
5,6-dihydroxyindole
air exposure

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Clinical manifestations of melanuria

Malignant melanoma

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Melanuria screening test result:
FeCl3 tube test:
Sodium nitroprusside test:
Ehrlich test=

FeCl3 tube test: (+) gray/black ppt
Sodium nitroprusside test: (+) red
Ehrlich test= (+) Red

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-most common inborn error of metabolism in the PH
(-) Gene that codes for enzyme for metabolism of the ketoacids of Leucine, Isoleucine and Valine

Maple Syrup Urine Disease (MSUD)

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Clinical manifestations of Maple Syrup Urine Disease (MSUD):

• Caramelized sugar/Maple syrup/Curry urine odor
• Failure to thrive, mental retardation

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Screening test for Maple Syrup Urine Disease (MSUD) result: 2,4-dinitrophenylhydrazine (DNPH):

2,4-dinitrophenylhydrazine (DNPH): (+) yellow turbidity/ppt

Confirmatory Test for Maple Syrup Urine Disease (MSUD): (2)

Gas/Thin layer chromatography Nuclear magnetic resonance spectro.

What are the Organic Acidemias: (3)

a. Isovaleric acidemia: Sweaty feet urine odor b. Propionic acidemia c. Methylmalonic acidemia: detected using p-nitroaniline test : (+) emerald green color

Indigo color of urine upon air exposure

Indicanuria

Indicanuria is seen in? (2)

Intestinal disorders (increase level of tryptophan) Hartnup disease= Blue diaper syndrome

Screening test for Indicanuria result: Obermayer’s FeCl3 + Urine + Chloroform=

(+) violet color

Increase level of 5-HIAA (Hydroxyl Indole Acetic Acid) in urine (increase serotonin) Carcinoid tumor involving argentaffin/enterochromaffin cells/ Kulchitsky’s cells

Argentaffinoma

Screening test result for Argentaffinoma: FeCl3 tube test: Nitrosonaphthol w/ nitrous acid:

FeCl3 tube test: (+) Blue-green Nitrosonaphthol w/ nitrous acid: (+) Violet

For individuals with Argentaffinoma, Avoid eating (6)

bananas pineapples tomatoes chocolate walnuts plums

Renal type of amino aciduria Defective tubular reabsorption

Cystinuria

Cystinuria Renal type of amino aciduria Defective tubular reabsorption (4)

• Cystine • Ornithine • Lysine • Arginine

Tests for cystinuria: (3)

TEST: • Brand’s modification of Legal’s nitroprusside Reagent: Cyanide Nitroprusside (+) Red-purple color • Thin layer or Ion exchange chromatography • High-voltage electrophoresis

What disorder has sulfur in urine

Cystinuria

Inborn error of metabolism􏰀 Overflow type (-) gene that codes for an enzyme responsible for cystine metabolism Cystine deposits in many areas of the body (BM, cornea, lymph nodes and internal organs)

Cystinosis

Test for Cystinosis and result

• Brand’s modification of Legal’s nitroprusside Reagent: Cyanide Nitroprusside (+) Red-purple color

Defects in the metabolism of methionine (leads to increase homocystine) (-) gene that codes for the enzyme cystathionine β-synthase

Homocystinuria

Test result for Homocystinuria: Silver-nitroprusside test: (+) Red-purple color

(+) Red-purple color

Porphyrin Disorders (Porphyrias) Disorders of porphyrin metabolism Urine color: Colorless in:

Porphyrin Disorders (Porphyrias) Disorders of porphyrin metabolism Urine color: Red/Purple/Burgundy-Red/Purplish-Red/Portwine Colorless in: Lead poisoning

ALA hydratase deficiency porphyria: (-) Gene that codes for

Aminolevulinic acid (ALA) synthetase

Acute intermittent porphyria: (-) Gene that codes for

Uroporphyrinogen synthase

Congenital erythropoietic porphyria: (-) Gene that codes for

Uroporphyrinogen cosynthase

Porphyria cutanea tarda: (-) Gene that codes for

Uroporphyrinogen decarboxylase

Hereditary coproporphyria: (-) Gene that codes for

Coproporphyrinogen oxidase

Variegate porphyria: (-) Gene that codes for

Protoporphyrinogen oxidase

SCREENING TESTS for Porphyrin Disorders (Porphyrias): Ehrlich’s reaction= Fluorescence at 550-600 nm= Free erythrocyte protoporphyrin (FEP)=

Ehrlich’s reaction= Detects D-ALA, porphobilinogen Fluorescence at 550-600 nm= Tests for uroporphyrin, coproporphyrin & protoporphyrin (+) Violet/Pink/Red fluorescence Free erythrocyte protoporphyrin (FEP)= CDC-recommended test for lead poisoning

Impaired metabolism of mucopolysaccharides or glycosaminoglycans (protein +polysaccharides, located in the connective tissues)

Mucopolysaccharide (MPS) Disorders (Mucopolysaccharidosis)

Mucopolysaccharide (MPS) Disorders (Mucopolysaccharidosis): Frequently found in urine are (3)

= dermatan sulfate = keratan sulfate = heparan sulfate

MPS accumulate in the cornea of the eye Skeletal abnormality & mental retardation present

Sex-linked recessive, rarely seen in females Skeletal abnormality & mental retardation present

Hunter syndrome

Mental retardation is the only abnormality

Sanfilippo syndrome

SCREENING TEST FOR MPS (3)

Acid albumin Cetyltrimethylammoniumbromide (CTAB) test Mucopolysaccharide (MPS) Paper Test

SCREENING TEST FOR MPS results: 1. Acid albumin= 2. Cetyltrimethylammoniumbromide (CTAB) test= 3. Mucopolysaccharide (MPS) Paper Test=

1. Acid albumin= (+)white turbidity 2. Cetyltrimethylammoniumbromide (CTAB) test= (+) white turbidity 3. Mucopolysaccharide (MPS) Paper Test (+) Blue color

(-) gene that codes for the enzyme hypoxanthine guanine phosphoribosyltransferase Increase uric acid in the blood and urine= “orange sand in diapers”, gout

Lesch-Nyhan Disease

Inability to metabolize galactose to glucose Associated with infant failure to thrive, liver disorders, cataracts and severe mental retardation

Galactosemia/Galactosuria

seen during pregnancy and lactation

Lactosuria

associated with parenteral feeding

Fructosuria

associated with ingestion of large amounts of fruit

Pentosuria