Strasinger AUBF - Metabolic disorders
UPDATED ACTUAL Questions and
CORRECT Answers
Homogentisic acid , melanin, indican , porphyrins - CORRECT ANSWER - Metaboloc
disorders detected through urine color
Phenylketonuria, maple Syrup Urine Disease, isovaleric academia, cystinuria, cystinosis,
homocystinuria - CORRECT ANSWER - Metaboloc disorders detected through urine odor
Cystine, Leucine, tyrosine, Lesch - CORRECT ANSWER - Nyhan disease - Metaboloc
disorders detected through urine crystals
Overflow disorders - CORRECT ANSWER - Result from disruption of a normal
metabolic pathway that causes increased plasma concentrations of the nonmetabolized
substances
Chemicals - CORRECT ANSWER - These either override the reabsorption ability of the
renal tubules or are not normally reabsorbed from the filtrate
Metabolic disturbances - CORRECT ANSWER - Abnormalities associated with _____ are
the most frequently encountered overflow disorders
Inborn error of metabolism (IEM) - CORRECT ANSWER - Disruption of enzyme
function caused by failure to inherit the gene to produce a particular enzyme
Phenylketonuria, Tyrosinemia, Alkaptonuria, Maple Syrup urine disease, Organic acidemias,
Cystinosis, Porphyria, Mucopolysaccharidoses, Galactosemia, Lesch - CORRECT
ANSWER - Nyhan Syndrome - Disorders that are classified as overflow inherited
, Infantile tyrosinemia, Melanuria, Indicanuria, 5 - CORRECT ANSWER -
Hydroxyindoleacetic acid, Porphyria - Disorders that are classified as metabolic
Hartnup disease, Cystinuria - CORRECT ANSWER - Disorders that are classified as
metabolic renal
IEMs - CORRECT ANSWER - Many of the urine tests were performed primarily to detect
and monitor newborns for ____
Toxic food ingredients - CORRECT ANSWER - Many of IEMs cause the buildup of
unmetabolized ____
Mass spectrophotometry (MS/MS) - CORRECT ANSWER - Capable of screening the
infant blood sample for specific substances associated with particular IEMs
Phenylketonuria, Tyrosyluria, Melanuria, Alkapturia - CORRECT ANSWER - Amino
acid disorders
Phenylketonuria - CORRECT ANSWER - Most well-known of the aminoacidopathies
Mental retardation - CORRECT ANSWER - Phenylketonuria may result in severe _____
Ivan Folling - CORRECT ANSWER - First identified in Norway by ____ in 1934
Phenylpyruvate - CORRECT ANSWER - Analysis of urine in Phenylketonuria shows
increased amounts of the keto acids, including _____
Phenylketonuria - CORRECT ANSWER - Occurs when the normal conversion of
phenylalanine to tyrosine is disrupted
UPDATED ACTUAL Questions and
CORRECT Answers
Homogentisic acid , melanin, indican , porphyrins - CORRECT ANSWER - Metaboloc
disorders detected through urine color
Phenylketonuria, maple Syrup Urine Disease, isovaleric academia, cystinuria, cystinosis,
homocystinuria - CORRECT ANSWER - Metaboloc disorders detected through urine odor
Cystine, Leucine, tyrosine, Lesch - CORRECT ANSWER - Nyhan disease - Metaboloc
disorders detected through urine crystals
Overflow disorders - CORRECT ANSWER - Result from disruption of a normal
metabolic pathway that causes increased plasma concentrations of the nonmetabolized
substances
Chemicals - CORRECT ANSWER - These either override the reabsorption ability of the
renal tubules or are not normally reabsorbed from the filtrate
Metabolic disturbances - CORRECT ANSWER - Abnormalities associated with _____ are
the most frequently encountered overflow disorders
Inborn error of metabolism (IEM) - CORRECT ANSWER - Disruption of enzyme
function caused by failure to inherit the gene to produce a particular enzyme
Phenylketonuria, Tyrosinemia, Alkaptonuria, Maple Syrup urine disease, Organic acidemias,
Cystinosis, Porphyria, Mucopolysaccharidoses, Galactosemia, Lesch - CORRECT
ANSWER - Nyhan Syndrome - Disorders that are classified as overflow inherited
, Infantile tyrosinemia, Melanuria, Indicanuria, 5 - CORRECT ANSWER -
Hydroxyindoleacetic acid, Porphyria - Disorders that are classified as metabolic
Hartnup disease, Cystinuria - CORRECT ANSWER - Disorders that are classified as
metabolic renal
IEMs - CORRECT ANSWER - Many of the urine tests were performed primarily to detect
and monitor newborns for ____
Toxic food ingredients - CORRECT ANSWER - Many of IEMs cause the buildup of
unmetabolized ____
Mass spectrophotometry (MS/MS) - CORRECT ANSWER - Capable of screening the
infant blood sample for specific substances associated with particular IEMs
Phenylketonuria, Tyrosyluria, Melanuria, Alkapturia - CORRECT ANSWER - Amino
acid disorders
Phenylketonuria - CORRECT ANSWER - Most well-known of the aminoacidopathies
Mental retardation - CORRECT ANSWER - Phenylketonuria may result in severe _____
Ivan Folling - CORRECT ANSWER - First identified in Norway by ____ in 1934
Phenylpyruvate - CORRECT ANSWER - Analysis of urine in Phenylketonuria shows
increased amounts of the keto acids, including _____
Phenylketonuria - CORRECT ANSWER - Occurs when the normal conversion of
phenylalanine to tyrosine is disrupted
