Urinary analysis In born errors of metabolism

overview of genetic metabolic disorders usually tested for in newborns and how to test and check for them. Treatment for these is usually monitoring and diet changes. these are normally detected in newborn blood screening but these are other key traits and methods of the diseases.

Where are amino acids regularly reabsorbed

PCT

cystinosis

build up of cystine due to incomplete metabolism (born error)

Cytinuria

aquired issues with cystine metabolism that results with it in the urine

homocystinuria

defect in amino acid metabolism of methionine

Maple syrup urine disease involves what amino acids

• Leucine

• isoleucine

• valine

if a babys diaper smells strongly of maple syrup it indicates

Maple syrup urine disease

maple syrup urine disease

transamination of amino acids in liver to keto acids n the blood and urine

A babys diaper smells mousy indicating

Phenlyketonuria

Phenlyketonuria

the body cannot process phenylalanine

Alkaptonuria

deficiency in homogentistic acid oxidase

• causes homogentistic acid to accumilate in the tissues, joints, blood, and urine

Alkaptonuria when untreated leads to

• arthritis

• liver

• cardiac issues

A babys diaper turns brown or black where urine should be. indicating

Alkaptonuria

Tyrosyluria

the body cannot break down tyrosine

Tyrosyluria when untreated leads to

eye, skin abnormalities, death, and intellectual disabilities

Melanuria

melanin in the urine

What does melanuria indicate for the patient

increased proliferation of melanin producing cells producing a malignant melanoma

• only turns brown/black after being exposed to air

Galactosuria

body cannot metabolize galactose

what is the most common cause of galactoeuria

galactosemia

Indicanuria and Hartnup (blue diapers syndrome)

tryptophan → indole→ liver → indican→ blue urine

Argentaffin cells produce

Serotonin

excess serotnin produced from argentaffin creates more degredation product called

5-HIAA

high 5-HIAA indicates

carcinoid tumors on argentaffin

Porphyrias

a bunch of different genetic disorders in the production of heme

Redish brown urine, sensitivity to sunlight, and neurological symptoms indicates

Porphyria

What test correlates with porphyrias

Watson-Schwartz test

When someone has protwine urine it indicates what test needs to be run

Watson- schwartz

Hunters, Hulers, and SanFilippos are all what kind of disorder and have what symptom in common

• Mucopolysaccharide disorders

• mental disabilities

Orange sand diapers indicate

Lesch-Nyhan

LEsch-Nyhan is

the deficiency in the HPRT enzyme

What is the orange sand in lesch-nyhan

Uric acid crystals