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Question 1

Test for alkaptonuria

Answer 1

Benedict Test, Ferric Chloride Test

Question 2

DEFECTIVE ENZYME of alkaptonuria

Answer 2

Homogentisic acid oxidase

Question 3

A deficiency of homogentisic acid
oxidase leads to the accumulation of
homogentisic acid in tissues and urine.
Causes ochronosis (pigmentation of
connective tissues) and arthritis over
time.

Answer 3

alkaptonuria

Question 4

Darkening of urine upon exposure to air due to oxidation of homogentisic acid.

Answer 4

alkaptonuria

Question 5

test for maple syrup urine disease

Answer 5

Hoesch test

Question 6

defective enzyme of maple syrup urine disease

Answer 6

Branched-chain alpha-keto acid dehydrogenase complex

Question 7

Deficiency in the enzyme complex that
breaks down branched-chain amino acids
(leucine, isoleucine, valine). Leads to
the accumulation of these amino acids,
resulting in toxic effects on the brain.

Answer 7

Maple Syrup Urine Disease

Question 8

Sweet, maple syrup odor in urine. Elevated levels of leucine, isoleucine, and valine.

Answer 8

Maple Syrup Urine Disease

Question 9

test for melanuria

Answer 9

Nitrosonaphthol Test

Question 10

Increased production or excretion of
melanin or its precursors, is often associated with malignant melanoma.

Answer 10

Melanuria

Question 11

Dark pigmentation in urine upon standing due to melanin or its precursors.

Answer 11

melanuria

Question 12

test for phenylketonuria

Answer 12

Silver nitrate test

Question 13

defective enzyme for phenylketonuria

Answer 13

Phenylalanine hydroxylase

Question 14

Deficiency in phenylalanine hydroxylase,
which converts phenylalanine to tyrosine,
leads to toxic levels of phenylalanine in the blood and urine.

Answer 14

phenylketonuria (PKU)

Question 15

The musty odor of urine, elevated phenylalanine in blood and urine

Answer 15

Phenylketonuria

Question 16

test for porphyria

Answer 16

Watson-Schwartz test

Question 17

defective enzyme of porphyria

Answer 17

Varies by type of porphyria

Question 18

Enzyme deficiencies in the heme
biosynthesis pathway cause the accumulation of porphyrins and their precursors. Symptoms vary, including abdominal pain, photosensitivity, and neurological effects.

Answer 18

Porphyria

Question 19

Red or brown urine due to the presence of porphyrins and porphyrin precursors.

Answer 19

porphyria

Question 20

These disorders occur when a metabolic pathway is disrupted, leading to an increased concentration of a substance in the blood (plasma).

Answer 20

Overflow disorders

Question 21

the problem lies within the tubular reabsorption mechanism of the kidneys. Due to a malfunction in this system, substances that would normally be reabsorbed are instead excreted in the urine.

Answer 21

renal disorders

Question 22

is essential for detecting inborn errors of metabolism (IEMs) early in life, many of which are related to abnormal urine
findings.

Answer 22

Newborn screening test

Question 23

One of the most significant advancements in newborn screening is the use

Answer 23

tandem mass spectrometry

Question 24

This technology can test for multiple IEMs from a single blood sample, identifying specific substances linked to particular metabolic disorders.

Answer 24

tandem mass spectrometry

Question 25

In the Philippines, newborn screening is mandated under

Answer 25

RA 9288

Question 26

RA 9288 is also known as

Answer 26

Newborn Screening Act of 2004

Question 27

The goal of this law is to ensure early detection and treatment of metabolic and genetic disorders that could lead to severe health complications if left untreated.

Answer 27

RA 9288 or Newborn screening act of 2004

Question 28

A condition where the thyroid gland does not produce enough thyroid hormone, leading to mental retardation if untreated.

Answer 28

Congenital Hypothyroidism (CH

Question 29

A group of genetic disorders affecting the adrenal glands, causing hormone imbalances.

Answer 29

Congenital Adrenal Hyperplasia (CAH)

Question 30

An inability to metabolize galactose, leading to liver damage, intellectual disability, and even death if untreated.

Answer 30

Galactosemia (GAL)

Question 31

A metabolic disorder where the body cannot break down phenylalanine, an amino acid that can build up and cause brain damage.

Answer 31

Phenylketonuria (PKU)

Question 32

A condition where red blood cells break down prematurely, leading to anemia.

Answer 32

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

Question 33

A disorder of branched-chain amino acid metabolism that can lead to brain damage.

Answer 33

Maple Syrup Urine Disease (MSUD)

Question 34

A condition affecting the recycling of biotin, a B-vitamin important for metabolism.

Answer 34

Biotinidase Deficiency

Question 35

A disorder affecting the metabolism of certain proteins and fats.

Answer 35

Methylmalonic Acidemia (MMA)

Question 36

A metabolic disorder affecting the processing of the amino acid methionine.

Answer 36

Homocystinuria