AMINOACIDOPATHIES.2 Flashcards
UREA CYCLE DISORDER: _________ = excess nitrogen that is generated when protein is used by the body
- most common form of disorder
- deficient enzyme
- build up of ______ and _____ in the blood - mutation of gene
- helps transport molecules inside cells that are used in production and breakdown of simple sugars, production of proteins, urea cycle
- molecules transported are also involved in production of _____ - treatment:
- ________ diet
- ________ supplementation
- administration of _____ & _____
CITRULLINEMIA
- TYPE 1
- argininosuccinic acid synthetase
- amino acid citrulline & ammonia - TYPE 2
- CITRIN
- NUCLEOTIDES - high caloric, protein restrictive diet
- arginine
- sodium benzoate and sodium phenylacetate
UREA CYCLE DISORDER: _________ = prevents argininosuccinic acid to arginine
- deficient enzyme
- _____ cannot differentiate citrullinemia from argininosuccinic ACIDEMIA
ARGININOSUCCINIC ACIDURIA
- ARGININOSUCCINIC ACID LYASE
- NEWBORN SCREENING TEST
______: amino acid transport rather than metabolic enzyme deficiency
- cystine precipitates out of urine and forms stones in ____,_____, or _______
- treatment:
- absolute minimum of _____ per day
- consistent _____ intake
- forms soluble complex with cystine as cystine is relatively insoluble - produces red purple on reaction
- with ______ groups - for quantitive analysis of amino acid in urine or plasma
CYSTINURIA
- kidneys, ureters, bladder
- treatment:
- 4L of water
- high fluid intake
- Penicillamine - Cyanide Nitroprusside
- sulfhydryl groups - Ion Exchange Chromatography
_____: migrates before albumin in the classic electrophoresis of serum or plasma proteins
- aka
- separated by _______ or _________
- transport protein for _____& ______
- decreased (3)
- low prealbumin level is sensitive marker of ________ - increased in patients receiving _____,_____,______
- it has short half life approx _____ days
PREALBUMIN
- TRANSTHYRETIN
- HIGH RESOLUTION ELECTROPHORESIS or IMMUNOELECTROPHORESIS TECHNIQUES
- THYROXINE & TRIIODOTHYRONINE
- hepatic damage, acute phase inflammatory response, tissue necrosis
- poor nutritional status - steroids, alcoholism, in chronic renal failure
- 2 days
_____: highest concentration in the plasma
1.exists in _____ space
2. plasma albumin conc = _____ albumin/ plasma volume
3. albumin: ___% of COP of intravascular fluid
ALBUMIN
- EXTRAVASCULAR
- INTRAVASCULAR
- 80%
______: glycoprotein mainly synthesized in liver
- inhibition of _____
- neutrophil elastase:
- can destroy alveoli:
- ______ therapy
- _____ from pooled plasma specimen - confirms electrophoresis
- _____ done using immunofixation
A1-ANTITRYPSIN
- PROTEASE NEUTROPHIL ELASTASE
- WBC
- EMPHYSEMA
- PROTEIN REPLACEMENT THERAPY
- PURIFIED A1-ANTITRYPSIN - RADIAL IMMUNODIFFUSION
- PHENOTYPING
______: synthesized in developing embryo and fetus and parenchymal cells
- AFP levels decrease gradually after birth, reaching adult levels by _____
- INCREASED (5)
- DECREASED (2)
- AFP screening between ______ gestational age
- AFP levels affected by: (3)
A1-FETOPROTEIM
- 8-12 months
- SPINA BIFIDA, NEURAL TUBE DEFECTS, ABDOMINAL WALL DEFECTS, ANENCEPHALY, GENERAL FETAL DISTRESS
- DOWN SYNDROME, TRISOMY 18
- 15-20 weeks
- maternal weight, race, diabetes
_____: negatively charged even in acid solutions
1.aka
2. _____ also provide useful diagnostic tool in neonates with bacterial infections
3. normal range for healthy individuals is ___ to ____
A1-ACIS GLYCOPROTEIN
- OROSOMUCOID
- SERUM AAG LEVELS
- 50-120mg/dL
____: inhibits the activity of enzymes CATHEPSIN G, PANCREATIC ELASTASE, MAST CELL CHYMASE, CHYMOTRYPSIN by cleaning them into different shape
- member of ________ family
- mutations have been identified in patients with ______ and ______
- Associated with Pathogenesis of ________
A1-ANTICHYMOTRYPSIN
- serine proteinase inhibitor
- Parkinson’s disease and Chronic Obstructive Pulmonary Disease
- Alzheimer’s Disease
