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Newborn and Metabolic Screening
Clinical Chemistry
54
Other
Undergraduate 4
11/01/2009

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Term
Acute Intermittent Porphyria screen test
Definition
porphobilinogen measurement with Erlich test and watson shwartz test
Term
Scute Intermittent Porphyria Symptoms
Definition
Abdominal pain, confusion, psychosis
Term
Porphyria Cutanea tarda Screen
Definition
Measure uroporphyrin in urine via fluorescence
Term
AIP enzyme involvement
Definition
Porphobilinogen deaminase
Term
PCT enzyme involvement
Definition
Uroporphobilinogen decarboxylase
Term
Muscle fibers screen
Definition
Specimen + 10% Eosin
Term
Fecal carbohydrates symptoms
Definition
Diarrhea
Term
Fecal carbohydrate screen test
Definition
Clintest
Term
Fecal carbohydrate specific test
Definition
Lactose and D-xylose for maldigestion and malabsorption confirmation
Term
Fecal blood screen test
Definition
Fecal occult blood test
Term
Fecal Leukocyte screen test
Definition
Wet prep with methylene blue or Gram stain, which is better in allowing to both see WBCs and the Bacteria
Term
Bilirubin screen test
Definition
Multistix diazo
Term
Bilirubin confirmatory test
Definition
Ictotest
Term
Urobilinogen screen test
Definition
Bayer dipstick
Term
Urobilinogen dirrerentiation test
Definition
Watson-Schwartz test
Term
5HIAA test is used for which disorder
Definition
Tryptophan disorder
Term
5HIAA Screen
Definition
Urine + nitrous acid + 1-nitroso-2napthol , abserve for purple/black
Term
5HIAA quantification
Definition
HPLC, flurometry, spectrophotometry
Term
Melanuria Screen
Definition
Add FeCl3, observe for black/grey
Term
Melanuria quantitative
Definition
colorimetry (nitroprusside)
Term
MPS screen
Definition
Berry spot test that precipitates all MPS, turbidity
Term
MPS quantitative/definitive test
Definition
Column chromatography, electrophoresis, TLC
Term
Phenylketouria enzymes involved
Definition
Phenylalanine hydroxylase, Dihydropteridine reductase, Biopterin synthase
Term
Maple surup urine disease Amino acids
Definition
Leucine, Isoleucine, Valine
Term
Ornithine transcarbamylase Amino acids
Definition
High ammonia "reyes"
Glutamine, absent citrulline Orotic acid (GO)
Term
Argininosuccinic Aciduria
Definition
High ammonia
Argininosuccinic acid presence
Term
Citrallinemia Amino acids
Definition
High ammonia
Glutamine, Citrulline (GC)
Term
Homocystinuria Amino acids
Definition
High ammonia
Methionine, homocystine
Term
Cystinuria Amino acids
Definition
URINE: Cysteine, lysine, ornithine, arginine (Cola)
Term
Nonketouric Hyperglycemia
Definition
High CSF and plasma glycine
Term
Tyrosinemia Type 1
Definition
Colicky pain, treatment NTBC Orfadin
Tyrosine, Methionine, Phenylalanine
Term
Cystinuria positive test
Definition
Sufhydryl
Term
Urobilinogen test Bayer dipstick false negatives
Definition
Formaline, old urine, antibiotics
Term
ICTOTEST interference (abnormal red color)
Definition
Pyridium
Term
Bilirubin multistix diazo false positives
Definition
large Clorpromazine amounts
Term
Bilirubin multistix diazo false negatives
Definition
Excess ascorbic acid, high nitrites, light exposure
Term
Urobilinogen Bayer dipstick false positives
Definition
Erlichs reactive compounds:
Porphobilinogen, para-aminosalicylic acid, sulfonamides, 5HIAA, methyldopa, chlorpromazine. Color interferences: Hemoglobin, bilirubin, drugs
Term
Urobilinogen is soluble in
Definition
chloroform and butanol
Term
Porphobilinogen is soluble in
Definition
aqueous
Term
5HIAA false positives
Definition
Seretonin rich foods: banannas, pineapple, walnut, tomato, plum, avocado, eggplant. Drugs: caffeine, acetaminophen, phenacetin, cough syrup
Term
5HIAA false negatives
Definition
phenothiazines, salicylates
Term
Compound used to remove interfering chromogens for 5HIAA
Definition
ethylene dichloride
Term
Excess seretonin and high HIAA is seen in
Definition
Carcinoid tumors
Term
What is melanin
Definition
Pigment derived from tyrosine, present in skin, hair, and eyes (lack=albino)
Term
High melanin levels in urine indicate
Definition
Malignant melanoma (overproiferation of melanocytes, skin cancer)
Term
Baceria that doesnt recruit PMNs in feces
Definition
Vibrio cholerae, S aureus
Term
Stool: visible streaks of red
Definition
minor hemorroidal bleed
Term
Dark red/tarry stool
Definition
Upper GI-esophageal, peptic, duodenal ulcer (>50ml)
Term
Diffuse red or not visible blood
Definition
lower GI, may be due to colon cancer
Term
Increase of fecal fat may be caused by:
Definition
Maldigestion, malabsorption
Term
Increase of fecal fat may be caused by:
Definition
Maldigestion, malabsorption
Term
Fecal fat maldigestion is due to:
Definition
Absence of bile: gall bladder obstruction, hepatic disease.
Absence of pancreatic enzymes (pancreatitis, cystic fibrosis)
Term
Fecal fat malabsorption is due to:
Definition
Loss of absorptive surface- mucosal cell dysfunction - celiac disease or sprue
Term
Cause of undigested striated muscle fibers
Definition
Biliary obstruction.
Pancreatic insufficiency: cystic fibrosis - thick sticky mucus, blocks tubes, digestive enzymes cant reach small interstines, intestines cant absorb fats or proteins fully
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