Strasinger AUBF - Metabolic disorders
Exam Questions and Answers 100%
Solved
Homogentisic acid , melanin, indican , porphyrins - ✔✔Metaboloc disorders
detected through urine color
Phenylketonuria, maple Syrup Urine Disease, isovaleric academia,
cystinuria, cystinosis, homocystinuria - ✔✔Metaboloc disorders detected
through urine odor
Cystine, Leucine, tyrosine, Lesch - ✔✔Nyhan disease - Metaboloc
disorders detected through urine crystals
Overflow disorders - ✔✔Result from disruption of a normal metabolic
pathway that causes increased plasma concentrations of the
nonmetabolized substances
Chemicals - ✔✔These either override the reabsorption ability of the renal
tubules or are not normally reabsorbed from the filtrate
1
©JOSHCLAY 2024/2025. YEAR PUBLISHED 2024.
, Metabolic disturbances - ✔✔Abnormalities associated with _____ are the
most frequently encountered overflow disorders
Inborn error of metabolism (IEM) - ✔✔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 - ✔✔Nyhan Syndrome - Disorders that are classified
as overflow inherited
Infantile tyrosinemia, Melanuria, Indicanuria, 5 - ✔✔Hydroxyindoleacetic
acid, Porphyria - Disorders that are classified as metabolic
Hartnup disease, Cystinuria - ✔✔Disorders that are classified as metabolic
renal
IEMs - ✔✔Many of the urine tests were performed primarily to detect and
monitor newborns for ____
Toxic food ingredients - ✔✔Many of IEMs cause the buildup of
unmetabolized ____
Mass spectrophotometry (MS/MS) - ✔✔Capable of screening the infant
blood sample for specific substances associated with particular IEMs
2
©JOSHCLAY 2024/2025. YEAR PUBLISHED 2024.
Exam Questions and Answers 100%
Solved
Homogentisic acid , melanin, indican , porphyrins - ✔✔Metaboloc disorders
detected through urine color
Phenylketonuria, maple Syrup Urine Disease, isovaleric academia,
cystinuria, cystinosis, homocystinuria - ✔✔Metaboloc disorders detected
through urine odor
Cystine, Leucine, tyrosine, Lesch - ✔✔Nyhan disease - Metaboloc
disorders detected through urine crystals
Overflow disorders - ✔✔Result from disruption of a normal metabolic
pathway that causes increased plasma concentrations of the
nonmetabolized substances
Chemicals - ✔✔These either override the reabsorption ability of the renal
tubules or are not normally reabsorbed from the filtrate
1
©JOSHCLAY 2024/2025. YEAR PUBLISHED 2024.
, Metabolic disturbances - ✔✔Abnormalities associated with _____ are the
most frequently encountered overflow disorders
Inborn error of metabolism (IEM) - ✔✔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 - ✔✔Nyhan Syndrome - Disorders that are classified
as overflow inherited
Infantile tyrosinemia, Melanuria, Indicanuria, 5 - ✔✔Hydroxyindoleacetic
acid, Porphyria - Disorders that are classified as metabolic
Hartnup disease, Cystinuria - ✔✔Disorders that are classified as metabolic
renal
IEMs - ✔✔Many of the urine tests were performed primarily to detect and
monitor newborns for ____
Toxic food ingredients - ✔✔Many of IEMs cause the buildup of
unmetabolized ____
Mass spectrophotometry (MS/MS) - ✔✔Capable of screening the infant
blood sample for specific substances associated with particular IEMs
2
©JOSHCLAY 2024/2025. YEAR PUBLISHED 2024.
