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WorksheetsInborn Error of Metabolism
Total questions: 20
Worksheet time: 10mins
Overflow type of Aminoacidurias
PKU
Faconi's syndrome
Cystinuria
Tyrosinuria
It is capable of screening infant blood sample for specific substances associated with particular IEMs
(a)
Enzyme missing in PKU
(a)
Screening test for PKU with gray to gray-green color as positive result
(a)
This inhibits the growth of the bacteria used in Guthrie Test
(a)
Result in Guthrie test with the ABSENCE of phenylalanine
(a)
Confirmatory test for PKU
(a)
Tyrosinemia/Tyrosiluria type if tyrosine aminotrasferase is missing/defecient
Type 1
Type 2
Type 3
Type 4
Confirmatory test for Tyrosiluria (give one)
(a)
Rancid Butter Urine Disease
(a)
Hartnup Disease is also known as
(a)
Lesch-Nyhan Syndrome is characterized by an increase level of what substance in the urine?
(a)
Screening test for Alkaptonuria which gives a yellow precipitate
FeCl3 Tube Test
Clinitest
Alkalinization of urine
What is the product of the oxidation of 5,6-dihydroxyindole?
(a)
Urine turns black upon air exposure
Alkaptonuria
Melanuria
Both
Neither
Which of the following is/are classified as Branched-Chain Amino Acid disorder?
MSUD
PKU
Tyrosinuria
Tyrosinemia
Screening test for Indicanuria
(a)
Metabolite of Serotonin
(a)
Cystinosis is a defective tubular absorption of what amino acid/s?
Ornithin
Lysin
Arginine
Cystein
None of the above
Test for the presence of homocystine in urine/blood (no need to put the word "test")
(a)
