[AUBF] Chapter 7 - Urine Screening For Metabolic DSD

OVERFLOW TYPE

2 CATEGORIES OF AMINOACIDURIA:
increase of Amino acid in BLOOD
increase of Amino acid in URINE
PKU, MSUD, CYTINOSIS

RENAL TYPE

2 CATEGORIES OF AMINOACIDURIA:
N - Amino acid in BLOOD
Increase of Amino acid in URINE
Cystinuria, Fanconi’s Syndrome

INBORN ERROR OF METABOLISM (IEM)

Failure to inherit a gene that codes for a particular enzyme

NO gene

NO enzyme

PHENYLKETONURIA

The most well-known of the aminoacidurias

PHENYLKETONURIA

NO PHENYLALANINE HYDROLASE

PHENYLKETONURIA

Other forms are due to lack of tetrahydrobiopterin

PHENYLKETONURIA

“MOUSY” urine, sweat, and breath odor

due to Phenylacetic acid

PHENYLKETONURIA

May lead to severe mental retardation

(+) BLUE-GREEN COLOR

[ SCREENING TEST ] FOR PHENYLKETONURIA
FeCl3 TUBE TEST

(+) GRAY TO GRAY-GREEN

[ SCREENING TEST ] FOR PHENYLKETONURIA

PHENISTIX STRIP

GUTHRIE BACTERIAL INHIBITION TEST

[ SCREENING TEST ] #3 FOR PHENYLKETONURIA

ION EXCHANGE HPLC

[ CONFIRMATORY TEST ] FOR PHENYLKETONURIA

Beta2-thienylalanine(B2-TE)

inhibits the growth of B. subtilis

Growth of B. subtilis

(+) PHENYLALANINE counteracts the action of

B2-TE (bacterial inhibitor) = ?

PKU

ZONE OF INHIBITION
(+) Growth = ?

No PKU

ZONE OF INHIBITION
(-) Growth = ?

TYROSYLURIA/TYROSINEMIA

May also be seen in severe liver dsx

TYROSYLURIA/TYROSINEMIA

“RANCID BUTTER” urine odor

TYROSYLURIA/TYROSINEMIA

No Gene that codes for:

TYPE 1: Fumarylacetoacetate hydrolase (FAH)

TYPE 2: Tyrosine aminotransferase (TAT)

TYPE 3: p-hydroxyphenyl pyruvic acid dioxygenase

(+) TRANSIENT GREEN

[ SCREENING TEST ] FOR TYROSYLURIA/TYROSINEMIA

FeCl3 TUBE TEST = ?

(+) ORANGE RED

[ SCREENING TEST ] FOR TYROSYLURIA/TYROSINEMIA

NITROSO-NAPHTHOL = ?

CHROMATOGRAPHY

[ CONFIRMATORY TEST ] #1 FOR TYROSYLURIA/TYROSINEMIA

QUANTITATIVE SERUM ASSAY OF TYROSINE

[ CONFIRMATORY TEST ] #2 FOR TYROSYLURIA/TYROSINEMIA

ALKAPTONURIA

NO HOMOGENTISIC ACID OXIDASE

ALKAPTONURIA

Urine darkens after becoming ALKALINE from standing @RT

ALKAPTONURIA

BROWN- or BLACK-stained cloth diapers

ALKAPTONURIA

Reddish-stained disposable (plastic) diapers

ALKAPTONURIA

Homogentisic acid causes black pigmentation in the connective tissues and ears (Ochronosis)

(+) TRANSIENT BLUE

[ SCREENING TEST ] FOR ALKAPTONURIA

FeCl3 TUBE TEST = ?

(+) YELLOW PRECIPITATE

[ SCREENING TEST ] FOR ALKAPTONURIA

CLINITEST = ?

PAPER/THIN LAYER CHROMATOGRAPHY

[ CONFIRMATORY TEST ] #1 FOR ALKAPTONURIA

CAPILLARY ELECTROPHORESIS

[ CONFIRMATORY TEST ] #2 FOR ALKAPTONURIA

MELANURIA

Caused by MELANOMA (tumor involving melanocytes)

MELANURIA

Tumor secretes 5,6-dihydroxyindole, which oxidizes to melanogen then to melanin

MELANURIA

Urine darkens upon AIR EXPOSURE

MELANURIA

Deficient production of melanin = ALBINISM

GRAY/BLACK PPT

[ SCREENING TEST ] FOR MELANURIA

FeCl3 TUBE TEST = ?

(+) RED

[ SCREENING TEST ] FOR MELANURIA

SODIUM NITROPRUSSIDE TEST = ?

(+) RED

[ SCREENING TEST ] FOR MELANURIA

EHRLICH TEST = ?

MAPLE SYRUP URINE DSX

Most common IEM in the PHILIPPINES

MAPLE SYRUP URINE DSX

NO Branched-chain alpha-keto acid dehydrogenase

MAPLE SYRUP URINE DSX

INCREASE OF Ketoacids of Leucine, Isoleucine, & Valine

MAPLE SYRUP URINE DSX

“Caramelized sugar/Maple syrup/Curry” urine odor

MAPLE SYRUP URINE DSX

Presence of Ketonuria in a newborn is significant

(+) YELLOW TURBIDITY/PPT

[ SCREENING TEST ] FOR MAPLESYRUP URINE

2,4-DINITROPHENYLHYDRAZINE (DNPH) = ?

GAS/THIN LAYER CHROMATOGRAPHY

NUCLEAR MAGNETIC RESONANCE SPECROPHOTOMETRY

[ CONFIRMATORY TEST ] FOR MAPLE SYRUP URINE

ISOVALERIC ACIDEMIA

“Sweaty feet” urine odor due to isovalerylglycine

PROPIONIC ACEDEMIA

ORGANIC ACIDEMIAS #2

METHYLMALONIC ACIDEMIA

Detected using P-NITROANILINE TEST = (+) EMERALD GREEN COLOR

INDICANURIA

Indigo blue urine color (upon air exposure)

INDICANURIA

seen in:

HARTNUP DSX = BLUE DIAPER SYNDROME

intestinal dsds

OBERMAYER’S TEST

FeCl3 + Urine + Chloroform = VIOLET COLOR

[ SCREENING TEST ] FOR INDICANURIA

ARGENTAFFINOMA

Tumor of Argentaffin/Enterochromaffin cells >>>

produce Serotonin = metabolized into 5-HIAA

ARGENTAFFINOMA

px must NOT EAT bananas, pineapples, tomatoes,

chocolates, walnuts plums, and avocado

(+) BLUE-GREEN

[ SCREENING TEST ] FOR ARGENTAFFINOMA
FeCl3 TUBE TEST = ?

(+) VIOLET

[ SCREENING TEST ] FOR ARGENTAFFINOMA

NITROSONAPHTHOL W/ NITROUS ACID TEST = ?

CYSTINE DSDs

URINE ODOR = “SULFUR”

CYSTINE DSDs

TREATMENT = D-PENICILLAMINE

CYANIDE NITROPRUSSIDE

[ TESTS ] FOR CYSTINE DSDs

Brand’s modification of Legal’s niitroprusside

REAGENT = ?

THIN LAYER/ION-EXCHANGE CHROMATOGRAPHY

HIGH-VOLTAGE ELECTROPHORESIS

[ TESTS ] FOR CYSTINE DSDs #2

CYSTINURIA

Renal type of aminoaciduria

CYSTINURIA

defective tubular reabsorption of:

d. Arginine

a. Cystine (less soluble) = Crystal formation

b. Ornithine

c. Lysine

CYSTINOSIS

Overflow type of aminoaciduria

CYSTINOSIS

(-) gene that codes for an enzyme responsible for cystine metabolism

CYSTINOSIS

TYPES = Nephropathis cystinosis, intermediate cystinosis, and ocular cystinosis

CYSTINOSIS

Cystine deposits in many areas of the body (BM, cornea, lumph nodes, and internal organs)

HOMOCYSTINURIA

Defects in the metabolism of Methionine = increase of Homocyctine

HOMOCYSTINURIA

NO Cystathione beta-synthase

(+) RED-PURPLE COLOR

[ SCREENING TEST ] FOR HOMOCYSTINURIA

SILVER-NITROPRUSSIDE TEST = ?

PORPHYRIN DSDs

Dsds of Porphyrin metabolism

PORPHYRIN DSDs

Urine color = Red/purple/burgundy-red/purplish

red/portwine

PORPHYRIN DSDs

Colorless in LEAD POISONING

EHRLICH’S RXN

[ SCREENING TEST ] FOR PORPHRYIN DSDs

detects D-ALA, Porphobilinogen

FLUORESECNCE @ 550-600nm = (+) VIOLET/PINK/RED)

[ SCREENING TEST ] FOR PORPHRYIN DSDs

Tests for Uroporphyrin, coproporphyrin, & protoporphyrin

FREE ERYHTOCYTE PROTOPORPHYRIN (FEP)

[ SCREENING TEST ] FOR PORPHRYIN DSDs

CDC-recommended test for LEAD POISONING

wao galing!

MUCOPOLYSACCHARIDOSIS

Impaired metabolism of mucopolysaccharides/glycosaminoglycans

MUCOPOLYSACCHARIDOSIS

Frequently found in urine are DERMATAN SULFATE, KERATIN SULFATE, & HEPARIN SULFATE

WHITE TURBIDITY

[ SCREENING TEST ] FOR MUCOPOLYSACCHARIDOSIS

ACID ALBUMIN (+)

(+) WHITE TURBIDITY

[ SCREENING TEST ] FOR MUCOPOLYSACCHARIDOSIS

CETYLTRIMETHYLAMMONIUMBROMIDE (CTAB) TEST = ?

(+) BLUE COLOR

[ SCREENING TEST ] FOR MUCOPOLYSACCHARIDOSIS
MUCOPOLYSACCHARIDE (MPS) PAPER TEST = ?

HURLER SYNDROME

A.k.a. Gargolysim or MPS Type 1

HURLER SYNDROME

MPS accumulate in the CONREA of the eye

(+) SKELETAL ABNORMALITIES

(+) MENTAL RETARDATION

HUNTER SYNDROME

Sex-linked recessive, rarely seen in Females

(+) SKELETAL ABNORMALITIES

(+) MENTAL RETARDATION

SANFILIPPO SYNDROME

(+) MENTAL RETARDATION

LESCH-NYHAN DSX

(-) Hypoxanthine guanine phosphoribosyltransferase

LESCH-NYHAN DSX

Uric acid in the blood and urine =“ORANGE SAND” in diaper

CHO DSD

(-) GLUCOSE STRIP

(+) REDUCTION TEST

MEATURIA

MEATURIA

presence of any CHO IN URINE

GALACTOSEMIA/GALACTOSURIA

Inability to metabolize galactose to glucose

(-) Galactose-1-phosphate uridyl transferase (GALT)

(-) Galactokinase

(-) UDP-galactose-4-epimerase

GALACTOSEMIA/GALACTOSURIA

Galactitol, galactonate, and galactose-1-phosphate

GALACTOSEMIA/GALACTOSURIA

Associated w/ infant failure to thrive, liver dsds, cataracts, and severe mental retardation

GLUCOSURIA

DIABETES MELLITUS

LACTOSURIA

seen during PREGNANCY and LACTATION

FRUCTOSURIA

associated w/ PARENTERAL FEEDING