METABOLIC DISORDER

74問 • 11ヶ月前

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Categories of metabolic disorders

OVERFLOW, RENAL

Category of metabolic disorder resulting from destruction of a normal metabolic pathway that causes increased plasma concentrations of amino acids

OVERFLOW

Category of metabolic disorder due to defective tubular reabsorption of amino acids

RENAL

Term refering failure to inherit a gene that codes for a particular enzyme

INBORN ERROR OF METABOLISM

Newborn screening test sample

PHENYLKETONURIA, MAPLE SYRUP URINE DISEASE, G6PD, CYSTINURIA, CYSTINOSIS

Major inherited disorders

PHENYLKETONURIA, TYROSYLURIA, ALKAPTONURIA

The most well known of the aminoacidurias

PHENYLKETONURIA

Gene failed to be inherited in phenylketonuria

PHENYLALANINE HYDROXYLASE

Urine odor in Phenylketonuria

MOUSY

Phenylketonuria may lead to___when not treated

MENTAL RETARDATION

Screening test for Phenylketonuria

FERRIC CHLORIDE TUBE TEST, PHENISTIX STRIP, GUTHRIE BACTERIAL INHIBITION TEST

Screening test for Phenylketonuria that exhibits +blue-green color

FERRIC CHLORIDE TUBE TEST

Screening test for Phenylketonuria which exhibits + gray to gray green color

PHENISTIX STRIP

The most well known phenylketonuria test

GUTHRIE BACTERIAL INHIBITION TEST, GUTHRIE MICROBIAL INHIBITION ASSAY

Inhibitor for Guthre inhibition test

BETA 2 THIENYLALANINE

Bacteria used in Guthrie Inhibition Test

BACILLUS SUBTILIS

Accumulation of excess tyrosine in the plasma producing a urinary overflow

TYROSYLURIA

Tyrosyluria type 1 failed gene decoded

FUMARYLACETOACETATE HYDROLASE

Tyrosyluria type 2 failed gene decoded

TYROSINE AMINOTRANSFERASE

Tyrosyluria type 3 failed gene decoded

P-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE

Tyrosyluria are also seen in patients w/ severe

LIVER DISEASE

Tyrosyluria urine odor

RANCID BUTTER

Screening test for Tyrosyluria

NITROSONAPHTOL

Confirmatory test for Tyrosyluria

CHROMATOGRAPHY

Deficiency in homogentisic acid oxidase leading to increased homogentisic acid

ALKAPTONURIA

Alkaptonuria produces ______ in body tissues that can lead to arthritis, liver and cardiac problems

BROWN PIGMENT DEPOSIT

Screening test for Alkaptonuria

FERRIC CHLORIDE TUBE TEST, BENEDICTS TEST, ALKALINIZATION OF FRESH URINE

Increased urinary melanin that produces a darkening of urine indicating malignant melanoma

MELANURIA

Screening test for melanuria

FERRIC CHLORIDE TUBE TEST, SODIUM NITROPRUSSIDE TEST, EHRLICH TEST

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

Clinical findings of branched chain amino acids

KETONURIA

What are the major groups of branched chain aminoacidurias

ACCUMULATION OF ONE OR MORE EARLY AMINO ACID DEGRADATION PRODUCT, ORGANIC ACIDEMIA

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

Most c'mon Inborn Error of Metabolism in the Philippines

MAPLE SYRUP URINE DISEASE

What are the enzymes failed to metabolized during maple syrup urine disease

LEUCINE, ISOLEUCINE, VALINE

Urine odor of Maple Syrup Urine Disease

CARAMELIZED SUGAR, MAPLE SYRUP, CURRY

Maple Syrup Urine Disease causes when left untreated

MENTAL RETARDATION, CONVULSION, ACIDOSIS, HYPOGLYCEMIA

Screening test for Maple syrup Urine disease

2,4 DINITROPHENYLHYDRAZINE, FERRIC CHLORIDE TUBE TEST

Generalized symptoms of organic acidemias

VOMITING W/ METABOLIC ACIDOSIS, HYPOGLYCEMIA, KETONURIA, INCREASED SERUM AMMONIA

Most c'monly encountered organic acidemias disorders

ISOVALERIC ACIDEMIA, PROPIONIC ACIDEMIA, METHYLMALONIC ACIDEMIA

Most c'monly encountered organic acidemias disorder exhibiting a sweaty feet urine odor

ISOVALERIC ACIDEMIA

Most c'monly encountered organic acidemias disorder detected using p-nitroaniline test

METHYLMALONIC ACIDEMIA

It is the increased urinary excretion of the metabolites indican and 5-hydroxyindoleacetic acid

TRYPTOPHAN AMINOACIDURIA

Argentaffinoma refers t the increased w/_____, a metabolite of serotonin

5-HYDROXYINDOLEACETIC ACID

Increased amounts of tryptophan which are converted to indole

INDICANURIA

Screening test for indicanuria

OBERMAYERS TEST

Indicanuria seen in intestinal disorders like

OBSTRUCTION, PRESENCE OF ABNORMAL BACTERIA, HARTNUP DISEASE

Refering to blue diaper syndrome or acid blue diaper syndrome due to indicanuria

HARTNUP DISEASE

Urine color of Hartnup disease

INDIGO BLUE

Degradation product of serotonin produced from tryptophan by argentaffin cells in the intestines

5-HYDROXYINDOLEACETIC ACID

Tumors that may appear due to increased in 5-hydroxyindoleacetic acid

ARGENTAFFIN CELL TUMOR

Screening test for 5-hydroxyindoleacetic acid

FERRIC CHLORIDE TUBE TEST, NITROSONAPHTOL W/ NITROUS ACID

What is being avoided nutrient content of food for patient preparation of 5-hydroxyindoleacetic acid

SEROTONIN

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

Cystinuria odor of urine

SULFUR

What amino acid being not reabsorbed during cystinuria

CYSTINE, ORNITHINE, LYSINE, ARGININE

Refering to cystine deposits in many areas of the body (BM, Cornea, Lymph nodes, and internal organs)

CYSTINOSIS

Failure of the gene that codes for an enzyme responsile for cystine metabolism

CYSTINOSIS

Tests for cystinuria and and cystinosis

BRANDS MODIFICATION OF LEGALS NITROPRUSSIDE TEST, THIN LAYER OR ION EXCHANGE CHROMATOGRAPHY, HIGH VOLTAGE ELECTROPHORESIS

Defect in the metabolism of the amino acid methionine leading to increased homocysteine

HOMOCYSTINURIA

What is the gene being failed to decode in Homocystinuria

CYSTATHIONE BETA SYNTHASE

Urine color during porphyrin disorders

RED, PURPLE, BURGUNDY RED, PURPLISH RED, PORT WINE

Porphyrin disorders are usually caused by

LEAD POISONING

Urine color when porphyrin disorder is due to lead poisoning

COLORLESS

CDC recommended test for lead poisoning

FREE ERYTHROCYTE PORPHYRIN

Sample used for Free Erythrocyte Porphyrin

WHOLE BLOOD

Accumulation of Incomplete Metabolized Polysaccharide portions in lysosome

MUCOPOLYSACCHARIDE DISORDER

Accumulation of mucopolysaccharide in the cornea

HURLER

Accumulation of mucopolysaccharide that causes skeletal structure abnormality and severe mental retardation

HUNTER

Accumulation of mucopolysaccharide which causes mental retardation only

SANFILIPPO SYNDROME

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

Findings of Lesch Nyhan disease

ORANGE SAND IN DIAPER

Test for Mucopolysaccharide Disorder

CETYL TRIMETHYL AMMONIUM BROMIDE TEST

CTAB test positive result

WHITE TURBIDITY

COMPH Lesson 5

Jef Marc Valencia · 73問 · 2年前

COMPH Lesson 5