2S [LEC]: Metabolic Diseases Flashcards
Metabolic disorder type that is a result of the absence or defect in an enzyme
Overflow type
Any disease originating in our chemical individuality
Metabolic disease
This hypothesis explains how the excess unconverted metabolites become toxic to the body due to the lack of enzyme that would normally convert it
Garrod’s hypothesis
Program to screen for congenital and heritable disorders
Newborn screening tests
RA ___ is the NBS act of 2004
RA 9288
NBS tests are performed using what method?
Tandem mass spectrophotometry (MS/MS)
The first tyrosine metabolism converts tyrosine to ___
p-Hydroxyphenylpyruvic acid
The second tyrosine metabolism converts tyrosine to ___
Melanine
Thyroxine
Epinephrine
Most well-known of the aminoacidurias
Phenylketonuria
Odor of urine of patients with PKU
Mousy odor
Condition where normal conversion of phenylalanine to tyrosine is disrupted
PKU
PKU is caused by failure to inherit the gene to produce which enzyme?
Phenylalanine hydroxylase
Microbial inhibition method used in PKU diagnosis
Guthrie method
In microbial inhibition method used in PKU diagnosis, the disk placed on culture media is streaked with what organism?
Bacillus subtilis
The B. subtilis inhibitor used in microbial inhibition method used for PKU diagnosis
beta-2-thienylalanine
PKU patients will have what result in microbial inhibition method?
B. subtilis growth
The ferric chloride test for PKU will produce what result?
Permanent blue-green
Excess tyrosine in plasma producing urinary overflow
Tyrosyluria
A nonspecific test for tyrosyluria that will produce an orange-red color
Nitroso-naphthol
Type of tyrosyluria that manifests as generalized renal tubular disorder and progressive liver failure in infants
Type 1
Deficient enzyme in Type 1 tyrosyluria
Fumarylacetoacetate (FAH)
Type of tyrosyluria that manifests as corneal erosion, palm, finger and soles lesions due to crystallization of tyrosine in cells
Type 2
Deficient enzyme in type 2 tyrosyluria
Tyrosine amino transferase
Type of tyrosyluria that manifests with mental retardation
Type 3
Deficient enzyme in type 3 tyrosyluria
p-hydroxyphenyl pyruvic acid dioxygenase
Increased metabolite in type 1 tyrosyluria patients
Tyrosine
Succinylacetone
Increased metabolite in type 2 tyrosyluria patients
Tyrosine
Genetic markers
4-hydroxyphenylpyruvic acid
Condition caused by a problem in the 2nd pathway in tyrosine metabolism
Melanuria
3rd major defect in the phe-tyr pathway
Alkaptonuria
Manifests with ochronosis
Alkaptonuria
Result of FeCl test in alkaptonuria
Transient blue color
Rare inherited autosomal recessive trait disorder where branched amino acids are involved
Maple syrup urine disease
Nonspecific test for MSUD
2,4-dinitrophenylhydrazine (DNPH) - yellow ppt
Also known as blue diaper syndrome
Hartnup disease (indicanuria)
Result of FeCl test in indicanuria
Deep blue/ violet color
