PART 2

Question 1

______: this prevents metabolism of branched chain amino acid kwhcine

1. deficient of
2. caused by mutations of ________
3. charac feature: ______ & _______
4. treatment: ______ diet

Answer 1

ISOVALERIC ACIDEMIA

1. isovaleryl-CoA dehydrogenase
2. isovaleryl-CoA dehydrogenase gene
3. sweaty feet & build up of isovaleric acid
4. protein-restrictive diet

Question 2

H

Question 3

_____: lack of necessary for metabolism of amino acid methionine
1. deficient of what enzyme
2. Guthrie test inhibitor
3. the confirmatory test
- methionine level greater than _____
4. causes why there’s lack of methionine(3)
- generic alterations is defect in ______
- the enzyme above converts _____ to ____

Answer 3

HOMOCYSTINURIA
1. cystathionine B-synthase
2. L-methionine sulfoximine
3. High Performance Liquid Chromatography
- 2mgdL
4. decrease folate conc, B12 deficiency, renal disorder
- methylene tetrahydrofolate reductase
- homocysteine to methionine

Question 4

2 UREA CYCLE DISORDERS

Answer 4

1. Citrullinemia
2. Argininosuccinic aciduria

Question 5

______: takes place in liver cells; excess nitrogen that is generated when protein is used by the body

1. most common form of this disorder
   - deficient in
   - build up of _____ as well as _____ in blood
2. mutation of gene
   - helps transport molecules inside cells that are used in production and breakdown of ____, production of _______, and ______
3. Treatment: _____
   - _____ supplementation
   - administration of ____ and _____

Answer 5

CITRULLINEMIA

1. TYPE 1 CITRULLINEMIA
   - argininosuccinic acid synthase
   - amino acid citrulline & ammonia
2. TYPE 2 CITRULLINEMIA
   - production and breakdown of simple sugars; production of proteins; and urea cycle
3. high caloric, protein restrictive diet
   - arginine supplementation
   - sodium benzoate & sodium phenylacetate

Question 6

_____: another urea cycle disorder
1. lack of ____
2. prevents conversion of _____ into ____

Answer 6

Argininosuccinic Aciduria
1. Argininosuccinic acid lyase
2. Argininosuccinic acid to arginine

Question 7

_____: amino acid transport system rather than metabolic enzyme deficiency
1. inadequate reabsorption of _____
2. cysteine precipitates out of urine and forms stones in ___,____,_____
3. treatment:
- absolute minimum of ___ per day
- consistent ______
- ____ forms more soluble complex with cysteine as cysteine is relatively insoluble
4. methods:
- produces red purple on rxn with sulfhydryl groups
- for quantitative analysis of amino acid in urine or plasma

Answer 7

CYSTINURIA
1. Cysteine
2. Kidney, ureters, bladder
3. treatment:
- 4L of water
- High fluid intake
- Penicillamine
4. methods:
- Cyanide nitroprusside
- Ion exchange chromatography