Categories of metabolic disorders

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

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

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

Newborn screening test sample

Major inherited disorders

The most well known of the aminoacidurias

Gene failed to be inherited in phenylketonuria

Urine odor in Phenylketonuria

Phenylketonuria may lead to___when not treated

Screening test for Phenylketonuria

Screening test for Phenylketonuria that exhibits +blue-green color

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

The most well known phenylketonuria test

Inhibitor for Guthre inhibition test

Bacteria used in Guthrie Inhibition Test

Accumulation of excess tyrosine in the plasma producing a urinary overflow

Tyrosyluria type 1 failed gene decoded

Tyrosyluria type 2 failed gene decoded

Tyrosyluria type 3 failed gene decoded

Tyrosyluria are also seen in patients w/ severe

Tyrosyluria urine odor

Screening test for Tyrosyluria

Confirmatory test for Tyrosyluria

Deficiency in homogentisic acid oxidase leading to increased homogentisic acid

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

Screening test for Alkaptonuria

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

Screening test for melanuria

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

Clinical findings of branched chain amino acids

What are the major groups of branched chain aminoacidurias

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

Most c'mon Inborn Error of Metabolism in the Philippines

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

Urine odor of Maple Syrup Urine Disease

Maple Syrup Urine Disease causes when left untreated

Screening test for Maple syrup Urine disease

Generalized symptoms of organic acidemias

Most c'monly encountered organic acidemias disorders

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

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

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

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

Increased amounts of tryptophan which are converted to indole

Screening test for indicanuria

Indicanuria seen in intestinal disorders like

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

Urine color of Hartnup disease

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

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

Screening test for 5-hydroxyindoleacetic acid

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

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 odor of urine

What amino acid being not reabsorbed during cystinuria

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

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

Tests for cystinuria and and cystinosis

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

What is the gene being failed to decode in Homocystinuria

Urine color during porphyrin disorders

Porphyrin disorders are usually caused by

Urine color when porphyrin disorder is due to lead poisoning

CDC recommended test for lead poisoning

Sample used for Free Erythrocyte Porphyrin

Accumulation of Incomplete Metabolized Polysaccharide portions in lysosome

Accumulation of mucopolysaccharide in the cornea

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

Accumulation of mucopolysaccharide which causes mental retardation only

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

Findings of Lesch Nyhan disease

Test for Mucopolysaccharide Disorder

CTAB test positive result