AA Flashcards
Enzymes defects that inhibits the body’s ability to metabolize certain amino acids
PKU Tyrosinemia Alkaptonuria MSUD Isovaleric Acidemia Homocystinuria Citrullinemia Arginosuccinic Aciduria Cystinuria
Phenylketonuria
Absence of _
_ of urine
phenylalanine hydroxylase (PAH) Musty odor
Laboratory Tests Phen
Guthrie test
Microfluorometric assay
Semi quantitative bacterial inhibition assay
Uses phenylalanine to facilitate bacterial growth (____ and___).
Guthrie test
B. subtilis and β-2-thienylalanine
Type II Tyrosinemia
↓ Tyrosine aminotransferase
Type III Tyrosinemia
↓ 4-hydroxyphenylpyruvate dioxygenase
Alkaptonuria
Lack of–
–
Lack of homogentisate oxidase
↑ homogentesic acid in urine
Type I Tyrosinemia
–
↓ fumarylacetoacetate hydrolase
Maple Syrup Urine Disease \_\_\_ \_\_ _ - \_\_\_odor of urine
↓ branched-chain α-ketoacid decarboxylase
↑ Isoleucine
↑ Leucine
↑ Valine
Burnt sugar
Map Syr test
Modified Guthrie test
Modified Guthrie test
uses branched chain ___ to facilitate bacterial growth (containing bbbbb and cvcvc).
α-ketoacid
B. subtilis
4-azaleucine
Isovaleric Acidemia
Deficiency of vvvvvvv
vvvvvv
vvvvv odor
Deficiency of isovaleryl-CoA dehydrogenase
↑ Isovaleric acid
Sweaty feet odor
Homocystinuria
Lack of vvvv
vvvv
vvvv
cystathionine β- synthetase
↑ Homocysteine
Methionine
Homocystinuria test
Uses vvv to facilitate bacterial growth (containing B. subtilis and vvvv).
Modified Guthrie test
Uses methionine to facilitate bacterial growth (containing B. subtilis and L-methionine sulfoximime).
Type I citrullinemia
Lack of vvvvv (ASAS)
Type I citrullinemia
Lack of arginonosuccinic acid synthetase (ASAS)
Mutation of the gene that encodes for protein citrin
Type II citrullinemia
Argininosuccinic aciduria
Lack of
argininosuccinic acid lyase (ASL)
Defect in amino acid transport system
Inadequate reabsorption of cystine in the kidneys
Cystinuria
Disintegration of protein to amino acids
degrades extracellular proteins
intra
Lysosomal pathway
Cytosolic pathway
Levels of protein structure
4
Primary
Secondary
Tertiary
Quarternary
Amino acids in a specific sequence
Regularly repeating structures stabilized by hydrogen bonds between the amino acids within the protein
Overall conformation (fold) of the protein molecule Due to interaction of side chains (e.g. ionic)
Interaction of more than 1 protein molecule or subunits
Primary
Secondary
Tertiary
Quarternary
Classification by Protein Functions 10
Enzymes Hormones Transport proteins Immunoglobulins (antibodies) Structural proteins Storage proteins Energy Source Osmotic force Homeostasis Acid-Base Balance
Contain peptide chains composed of only amino acids.
May be globular(_ _ ) or fibrous ()
Simple Proteins
May be globular (hormone, enzymes, transport) or fibrous (structural)
Conjugated Proteins
4
Metalloprotein
Lipoprotein
Mucoprotein and glycoprotein
Nucleoprotein
With higher carbohydrate -
10%-40% carbohydrate -
Nucleic acids attached-
Mucoproteins or proteoglycans - Mucin
Glycoproteins - Haptoglobin and α1-antitrypsin
Nucleoproteins - Chromatin
Plasma Proteins 2
Albumin
Globulin α1-Globulins α2- Globulins β-Globulins γ-Globulins
Indicator of nutrition
Binds thyroid hormones (_ _)
Binds retinol-binding protein
Prealbumin
T3, T4
Binds bilirubin, steroids, fatty acids
Major contributor to _ _
Albumin
oncotic pressure
α1-Globulins
α1- Antichymotrypsin Antitrypsin Lipoprotein Fetoprotein Acid glycoprotein Inter-α-trypsin inhibitor Gc-globulin
α1 - Antitrypsin
and
Acute phase reactant (α1 - Acid glycoprotein
)
Protease inhibitor
α1 - Fetoprotein
Principal fetal protein
↑ spina bifida, ↓ - Down syndrome
Transport lipids (HDL)
α1 – Lipoprotein
Inhibits serine proteinases
-
Gc-globulin
α1 - Antichymotrypsin
Inter-α-trypsin inh.
-
Transports Vit. D and binds actin