10.1 Metabolic disorder Flashcards
Inborn error of metabolism due to enzyme deficiency is term as?
Overflow
Failure of PCT reabsorption is term as?
Renal
Phenylketonuria
Manifestation include mental retardation
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
a
Mousy Color
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
a
Tyrosinuria
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
b
Nitrosonapthol test: RED (+)
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
b
Melanuria
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
d
Black colored urine when pH turns ALKALINE
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
c
Black color urine when expose to air
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
d
Alkaptonuria
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
c
ACetest: RED (+)
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
d
Silver nitroprusside: BLACK (+)
a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells
c
Maple syrup Urine disease
a. Deficiency in decarboxylases
b. IsoValeryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
a
Melanuria, MSUD, Isovaleric Acidemia, are positive in acetest due to the presence of?
Ketones
Caramel-like odor of urine
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
a
Isovaleric acidemia
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
b
Sweaty feet odor of urine
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
b
Hartnup syndrome
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
c
Blue diaper syndrome
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
c
Obermayer’s test: Blue (+)
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
c
Increased excretion of 5-HIAA
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
d
Nitrosonapthol test: Violet (+)
a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors
d
Cystinuria
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
c
Positive in Cyanide Nitroprusside Test (Red purple) - 2 answers
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
b and c
Homocystinuria
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
b
Screening test:
- Acid Albumin Test (30 mins)
- Cetyltrimethyleammonium bromide test
- MPS paper test/Metachromatic staining spot test (Azure A dye)
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
a
Lesch-Nyhan Syndrome
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
d
Orange sand in diapers
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency
d
Deficiency in GALT
a. Galactosemia
b. Phorpyrias
a
Clinitest (+) orange-Red
a. Galactosemia
b. Phorpyrias
a
Same reagent with Ehrlich Reaction but with the addition of 6M or 6N HCl
a. Hoesch Test
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet
a
Ehrlich reaction is used to detect what component in urine?
Urobilinogen
With the addtion of HCl in Ehrlich reaction, this allow detection of?
Porphobilinogen
Positive indicator for Hoesch test?
a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet
d
Acetylacetone is added in hoesch test to convert ALA to PBG which produces what color?
Cherry red
For Uropophyin, Coproporphyrin, and protoporphyrin
a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet
b
Recommended screening test for lead poisoning
a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet
c
