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

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

Urine color during porphyrin disorders

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

Screening test for Phenylketonuria

A purine disorder which causes massive excretion of uric acid crystals in the urine caused by a failure of inherited gene that will produce______

Tyrosyluria type 2 failed gene decoded

What are the major groups of branched chain aminoacidurias

Screening test for Tyrosyluria

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

Screening test for 5-hydroxyindoleacetic acid

Newborn screening test sample

Accumulation of excess tyrosine in the plasma producing a urinary overflow

Cystinuria odor of urine

Test for Mucopolysaccharide Disorder

The most well known of the aminoacidurias

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

What amino acid being not reabsorbed during cystinuria

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

Urine color when porphyrin disorder is due to lead poisoning

Screening test for Alkaptonuria

Confirmatory test for Tyrosyluria

Maple Syrup Urine Disease causes when left untreated

Accumulation of Incomplete Metabolized Polysaccharide portions in lysosome

Generalized symptoms of organic acidemias

Screening test for melanuria

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

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

CDC recommended test for lead poisoning

Urine color of Hartnup disease

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

CTAB test positive result

What is the gene being failed to decode in Homocystinuria

Tyrosyluria type 3 failed gene decoded

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

Most c'mon Inborn Error of Metabolism in the Philippines

Gene failed to be inherited in phenylketonuria

Bacteria used in Guthrie Inhibition Test

Inhibitor for Guthre inhibition test

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

Urine odor of Maple Syrup Urine Disease

The most well known phenylketonuria test

Accumulation of mucopolysaccharide which causes mental retardation only

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

Indicanuria seen in intestinal disorders like

Tests for cystinuria and and cystinosis

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

Sample used for Free Erythrocyte Porphyrin

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

Urine odor in Phenylketonuria

Accumulation of mucopolysaccharide in the cornea

Screening test for Maple syrup Urine disease

Increased amounts of tryptophan which are converted to indole

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

Most c'monly encountered organic acidemias disorders

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

Screening test for Phenylketonuria that exhibits +blue-green color

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

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

Phenylketonuria may lead to___when not treated

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

Deficiency in homogentisic acid oxidase leading to increased homogentisic acid

Categories of metabolic disorders

Porphyrin disorders are usually caused by

Tyrosyluria type 1 failed gene decoded

Major inherited disorders

Tyrosyluria urine odor

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

Findings of Lesch Nyhan disease

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

Screening test for indicanuria

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

Tyrosyluria are also seen in patients w/ severe

Clinical findings of branched chain amino acids