aubf leccc Flashcards
Test for alkaptonuria
Benedict Test, Ferric Chloride Test
DEFECTIVE ENZYME of alkaptonuria
Homogentisic acid oxidase
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.
alkaptonuria
Darkening of urine upon exposure to air due to oxidation of homogentisic acid.
alkaptonuria
test for maple syrup urine disease
Hoesch test
defective enzyme of maple syrup urine disease
Branched-chain alpha-keto acid dehydrogenase complex
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.
Maple Syrup Urine Disease
Sweet, maple syrup odor in urine. Elevated levels of leucine, isoleucine, and valine.
Maple Syrup Urine Disease
test for melanuria
Nitrosonaphthol Test
Increased production or excretion of
melanin or its precursors, is often associated with malignant melanoma.
Melanuria
Dark pigmentation in urine upon standing due to melanin or its precursors.
melanuria
test for phenylketonuria
Silver nitrate test
defective enzyme for phenylketonuria
Phenylalanine hydroxylase
Deficiency in phenylalanine hydroxylase,
which converts phenylalanine to tyrosine,
leads to toxic levels of phenylalanine in the blood and urine.
phenylketonuria (PKU)
The musty odor of urine, elevated phenylalanine in blood and urine
Phenylketonuria
test for porphyria
Watson-Schwartz test
defective enzyme of porphyria
Varies by type of porphyria
Enzyme deficiencies in the heme
biosynthesis pathway cause the accumulation of porphyrins and their precursors. Symptoms vary, including abdominal pain, photosensitivity, and neurological effects.
Porphyria
Red or brown urine due to the presence of porphyrins and porphyrin precursors.
porphyria
These disorders occur when a metabolic pathway is disrupted, leading to an increased concentration of a substance in the blood (plasma).
Overflow disorders
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.
renal disorders
is essential for detecting inborn errors of metabolism (IEMs) early in life, many of which are related to abnormal urine
findings.
Newborn screening test
One of the most significant advancements in newborn screening is the use
tandem mass spectrometry
This technology can test for multiple IEMs from a single blood sample, identifying specific substances linked to particular metabolic disorders.
tandem mass spectrometry
In the Philippines, newborn screening is mandated under
RA 9288
RA 9288 is also known as
Newborn Screening Act of 2004
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.
RA 9288 or Newborn screening act of 2004
A condition where the thyroid gland does not produce enough thyroid hormone, leading to mental retardation if untreated.
Congenital Hypothyroidism (CH
A group of genetic disorders affecting the adrenal glands, causing hormone
imbalances.
Congenital Adrenal Hyperplasia (CAH)
An inability to metabolize galactose, leading to liver damage, intellectual disability, and even death if untreated.
Galactosemia (GAL)
A metabolic disorder where the body cannot break down phenylalanine, an amino acid that can build up and cause brain damage.
Phenylketonuria (PKU)
A condition where red blood cells break down prematurely, leading to anemia.
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
A disorder of branched-chain amino acid metabolism that can lead to brain damage.
Maple Syrup Urine Disease (MSUD)
A condition affecting the recycling of biotin, a B-vitamin important for metabolism.
Biotinidase Deficiency
A disorder affecting the metabolism of certain proteins and fats.
Methylmalonic Acidemia (MMA)
A metabolic disorder affecting the processing of the amino acid methionine.
Homocystinuria
