AMINOACIDOPATHIES

Question 1

PHENYLKETONURIA

1. Absence of enzyme
   - this enzyme catalyzes ______ to _____
2. NEWBORN upper limit
3. PKU is to maintain the level of phenylalanine to _____
4. if untreated classic PKU, blood levels as high as ____ can be found
   - also high levels of metabolites like _____,_____,______
5. ______ that are not the result of lack of PAH enzyme also occur
   - PAH enzyme is the regeneration and synthesis of ________

Answer 1

1. PHENYLALANINE HYDROXYLASE
   - PHENYLALANINE to TYROSINE
2. 120 umol/L (2mg/dL)
3. 2-10mg/dL
4. 2.4mM/L
   - phenylpyruvic acid, phenylpyruvate, phenyl lactic acid
5. Hyperphenylalanine
   - tetrahydrobiopterin

Question 2

Test for PKU: _______
1. bacteria used for bacterial assay
2. inhibitor
3. sensitivity

Answer 2

GUTHRIE TEST
1. Bacillus subtilis
2. B2-thienylalanine
3. 180-240 umol/L

Question 3

______: inborn metabolic disorder of tyrosine catabolism

1. most severe type
   - 5th enzyme out of 5 enzymes to breakdown tyrosine
   - give 3 s/s
2. excreted by kidneys or used in energy producing reactions
   - 1st enzyme out of 5 enzymes
   - give 3 s/s
3. rare disorder
   - defect
   - found mainly in ____ and lesser in kidneys

Answer 3

TYROSINEMIA

1. TYPE 1
   - fumarylacetoacetate hydrolase
   - cabbage like odor, jaundice, distended abdomen
2. TYPE 2
   - tyrosine aminotransferase
   - excessive tearing, photophobia, eye pain & redness
3. TYPE 3
   - 4-hydroxyphenylpyruvate dioxygenase
   - liver

Question 4

TREATMENT OF TYROSINEMIA

1. _____ diet
2. _____: prevents formation of ______ & _____
   - converted to ________ (increased toxin damages liver and kidney)
3. _____: toxin that damages liver and kidneys or full or partial liver transplant

Answer 4

1. low protein diet
2. Nitisinone: maleyacetoacetic acid & fumarylacetoacetic acid
   - succinylacetone
3. Succinylacetone

Question 5

______: inborn metabolic disease that is transmitted as autosomal recessive gene

1. ____ gene
   - causes the lack of enzyme _______ (needed in metabolism of tyrosine and phenylalanine
2. patients urine turns ____ when mixed with air
   - oxidation of accumulated ______ produces dark pigment
3. late in the disease
   - pigmentation tissue
   - due to building up of homogentisic acid
   - dark spots on _____
   - deposition of pigment in cartilage of ___,___ , and ______

Answer 5

ALKAPTONURIA

1. HGD gene
   - HOMOGENTISATE OXIDASE
2. BROWNISH BLACK
   - HOMOGENTISIC ACID
   3.
   -ochronosis
   - arthritis-like degeneration in cartilage
   - sclera
   - ears, nose, tendons

Question 6

1. test used for alkaptonuria
   - _____ + _____ = black coloration
2. treatment for this
   - decreases ______
   - slow development of _____

Answer 6

1. URINALYSIS
   - FERRIC CHLORIDE + URINE
2. HIGH DOSE OF VITAMIN C
   - BROWN PIGMENT
   - ARTHRITIS

Question 7

MAPLE SYRUP URINE DISEASE
1. absence of enzyme
2. blocks 3 essential benches amino acids (3)
3. characteristic: ____ or ____ odor of urine, breath, skin

Answer 7

1. alpha-ketoacid decarboxylase
2. leucine, isoleucine, valine
3. maple syrup or burnt sugar

Question 8

diagnosis of MSUD
1. test = _______
2. inhibitor
3. assay used
- mixture of ____ and _____
- denatures ______
- wavelength ____ and ______ (excitation)
4. leucine should be _______

Answer 8

diagnosis of MSUD
1. MODIFIED GUTHRIE TEST
2. 4-azaleucine
3. Microfluorometric assay
- methanol and acetone
- hemoglobin
- 450nm & 360nm
4. >4 mg/dL

Question 9

______: preventing normal metabolism of branched chain amino acid leucine

1. enzyme that is deficient
2. ## characteristic feature:
3. treatment

Answer 9

ISOVALERIC ACIDEMIA

1. isovaleryl-CoA-dehydrogenase
2. characteristic feature:
   - sweaty feet
   - build up of isovaleric acid
3. protein-restrictive diet

Question 10

______: necessary for metabolism of amino acid methionine

1. deficient enzyme
2. Guthrie test inhibitor
3. Confirmatory method
   - Confirmatory method methionine level greater than
4. Genetic alterations is defect in _______
   - this enzyme converts ______ to methionine

Answer 10

HOMOCYSTINURIA

1. cystathionine-beta-synthase
2. L-methionine sulfoximine
3. HPLC
   - >2mg/dL
4. methylene tetrahydrofolate reductase
   - homocysteine