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1
Categories of metabolic disorders
OVERFLOW, RENAL
2
Category of metabolic disorder resulting from destruction of a normal metabolic pathway that causes increased plasma concentrations of amino acids
OVERFLOW
3
Category of metabolic disorder due to defective tubular reabsorption of amino acids
RENAL
4
Term refering failure to inherit a gene that codes for a particular enzyme
INBORN ERROR OF METABOLISM
5
Newborn screening test sample
PHENYLKETONURIA, MAPLE SYRUP URINE DISEASE, G6PD, CYSTINURIA, CYSTINOSIS
6
Major inherited disorders
PHENYLKETONURIA, TYROSYLURIA, ALKAPTONURIA
7
The most well known of the aminoacidurias
PHENYLKETONURIA
8
Gene failed to be inherited in phenylketonuria
PHENYLALANINE HYDROXYLASE
9
Urine odor in Phenylketonuria
MOUSY
10
Phenylketonuria may lead to___when not treated
MENTAL RETARDATION
11
Screening test for Phenylketonuria
FERRIC CHLORIDE TUBE TEST, PHENISTIX STRIP, GUTHRIE BACTERIAL INHIBITION TEST
12
Screening test for Phenylketonuria that exhibits +blue-green color
FERRIC CHLORIDE TUBE TEST
13
Screening test for Phenylketonuria which exhibits + gray to gray green color
PHENISTIX STRIP
14
The most well known phenylketonuria test
GUTHRIE BACTERIAL INHIBITION TEST, GUTHRIE MICROBIAL INHIBITION ASSAY
15
Inhibitor for Guthre inhibition test
BETA 2 THIENYLALANINE
16
Bacteria used in Guthrie Inhibition Test
BACILLUS SUBTILIS
17
Accumulation of excess tyrosine in the plasma producing a urinary overflow
TYROSYLURIA
18
Tyrosyluria type 1 failed gene decoded
FUMARYLACETOACETATE HYDROLASE
19
Tyrosyluria type 2 failed gene decoded
TYROSINE AMINOTRANSFERASE
20
Tyrosyluria type 3 failed gene decoded
P-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE
21
Tyrosyluria are also seen in patients w/ severe
LIVER DISEASE
22
Tyrosyluria urine odor
RANCID BUTTER
23
Screening test for Tyrosyluria
NITROSONAPHTOL
24
Confirmatory test for Tyrosyluria
CHROMATOGRAPHY
25
Deficiency in homogentisic acid oxidase leading to increased homogentisic acid
ALKAPTONURIA
26
Alkaptonuria produces ______ in body tissues that can lead to arthritis, liver and cardiac problems
BROWN PIGMENT DEPOSIT
27
Screening test for Alkaptonuria
FERRIC CHLORIDE TUBE TEST, BENEDICTS TEST, ALKALINIZATION OF FRESH URINE
28
Increased urinary melanin that produces a darkening of urine indicating malignant melanoma
MELANURIA
29
Screening test for melanuria
FERRIC CHLORIDE TUBE TEST, SODIUM NITROPRUSSIDE TEST, EHRLICH TEST
30
The branched chain amino acids differ form the other amino acids by having a methyl (-CH3) group that branches from the main aliphatic carbon chain
BRANCHED CHAIN AMINOACIDURIA
31
Clinical findings of branched chain amino acids
KETONURIA
32
What are the major groups of branched chain aminoacidurias
ACCUMULATION OF ONE OR MORE EARLY AMINO ACID DEGRADATION PRODUCT, ORGANIC ACIDEMIA
33
Major group of branched chain aminoacidurias refering to accumulation of organic acids produced further down in the amino acid metabolic pathway leading to excretion of organic acids in urine
ORGANIC ACIDEMIA
34
Most c'mon Inborn Error of Metabolism in the Philippines
MAPLE SYRUP URINE DISEASE
35
What are the enzymes failed to metabolized during maple syrup urine disease
LEUCINE, ISOLEUCINE, VALINE
36
Urine odor of Maple Syrup Urine Disease
CARAMELIZED SUGAR, MAPLE SYRUP, CURRY
37
Maple Syrup Urine Disease causes when left untreated
MENTAL RETARDATION, CONVULSION, ACIDOSIS, HYPOGLYCEMIA
38
Screening test for Maple syrup Urine disease
2,4 DINITROPHENYLHYDRAZINE, FERRIC CHLORIDE TUBE TEST
39
Generalized symptoms of organic acidemias
VOMITING W/ METABOLIC ACIDOSIS, HYPOGLYCEMIA, KETONURIA, INCREASED SERUM AMMONIA
40
Most c'monly encountered organic acidemias disorders
ISOVALERIC ACIDEMIA, PROPIONIC ACIDEMIA, METHYLMALONIC ACIDEMIA
41
Most c'monly encountered organic acidemias disorder exhibiting a sweaty feet urine odor
ISOVALERIC ACIDEMIA
42
Most c'monly encountered organic acidemias disorder detected using p-nitroaniline test
METHYLMALONIC ACIDEMIA
43
It is the increased urinary excretion of the metabolites indican and 5-hydroxyindoleacetic acid
TRYPTOPHAN AMINOACIDURIA
44
Argentaffinoma refers t the increased w/_____, a metabolite of serotonin
5-HYDROXYINDOLEACETIC ACID
45
Increased amounts of tryptophan which are converted to indole
INDICANURIA
46
Screening test for indicanuria
OBERMAYERS TEST
47
Indicanuria seen in intestinal disorders like
OBSTRUCTION, PRESENCE OF ABNORMAL BACTERIA, HARTNUP DISEASE
48
Refering to blue diaper syndrome or acid blue diaper syndrome due to indicanuria
HARTNUP DISEASE
49
Urine color of Hartnup disease
INDIGO BLUE
50
Degradation product of serotonin produced from tryptophan by argentaffin cells in the intestines
5-HYDROXYINDOLEACETIC ACID
51
Tumors that may appear due to increased in 5-hydroxyindoleacetic acid
ARGENTAFFIN CELL TUMOR
52
Screening test for 5-hydroxyindoleacetic acid
FERRIC CHLORIDE TUBE TEST, NITROSONAPHTOL W/ NITROUS ACID
53
What is being avoided nutrient content of food for patient preparation of 5-hydroxyindoleacetic acid
SEROTONIN
54
A condition marked by elevated amounts of the amino acids cystine in tthe urine due to the inability of the renal tubules to reabsorb cystine filtered by the glomerulus
CYSTINURIA
55
Cystinuria odor of urine
SULFUR
56
What amino acid being not reabsorbed during cystinuria
CYSTINE, ORNITHINE, LYSINE, ARGININE
57
Refering to cystine deposits in many areas of the body (BM, Cornea, Lymph nodes, and internal organs)
CYSTINOSIS
58
Failure of the gene that codes for an enzyme responsile for cystine metabolism
CYSTINOSIS
59
Tests for cystinuria and and cystinosis
BRANDS MODIFICATION OF LEGALS NITROPRUSSIDE TEST, THIN LAYER OR ION EXCHANGE CHROMATOGRAPHY, HIGH VOLTAGE ELECTROPHORESIS
60
Defect in the metabolism of the amino acid methionine leading to increased homocysteine
HOMOCYSTINURIA
61
What is the gene being failed to decode in Homocystinuria
CYSTATHIONE BETA SYNTHASE
62
Urine color during porphyrin disorders
RED, PURPLE, BURGUNDY RED, PURPLISH RED, PORT WINE
63
Porphyrin disorders are usually caused by
LEAD POISONING
64
Urine color when porphyrin disorder is due to lead poisoning
COLORLESS
65
CDC recommended test for lead poisoning
FREE ERYTHROCYTE PORPHYRIN
66
Sample used for Free Erythrocyte Porphyrin
WHOLE BLOOD
67
Accumulation of Incomplete Metabolized Polysaccharide portions in lysosome
MUCOPOLYSACCHARIDE DISORDER
68
Accumulation of mucopolysaccharide in the cornea
HURLER
69
Accumulation of mucopolysaccharide that causes skeletal structure abnormality and severe mental retardation
HUNTER
70
Accumulation of mucopolysaccharide which causes mental retardation only
SANFILIPPO SYNDROME
71
A purine disorder which causes massive excretion of uric acid crystals in the urine caused by a failure of inherited gene that will produce______
LESCH NYHAN SYNDROME
72
Findings of Lesch Nyhan disease
ORANGE SAND IN DIAPER
73
Test for Mucopolysaccharide Disorder
CETYL TRIMETHYL AMMONIUM BROMIDE TEST
74
CTAB test positive result
WHITE TURBIDITY
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