Unit 6 Flashcards
case for metabolic diseases
Anabolism
Which metabolic disorder can be detected using the Benedict Test, Ferric Chloride Test, and Silver Nitrate Test?
Alkaptonuria
Which metabolic disorders can be detected using Ferric chloride test?
MSUD, Melanuria, PKU
Which metabolic disorder can be detected using Hoesch Test?
Prophyria
Which metabolic disorder can be detected using Nitorsonaphthol test?
Tyrosinuria
Which metabolic disorder can be detected using Watson-Schwartz test?
Prophyria
metabolic pathway becomes
overwhelmed because of the excess substrate
Overflow type
occurs within the kidneys to regulate the
body’s internal environment
Renal Type
where fatty acids are metabolized to smaller
molecules to produce energy where it goes
to Acetyl Coenzyme A in the mitochondria
Beta-oxidative metabolism
process where Acetyl CoA is converted to
ketones during fasting or low carbohydrate
intake or prolonged exercise
Ketogenesis
breakdown of glucose producing.
Glycolysis
synthesis of glycogen
Glycogenesis
breakdown of glycogen
Glycogenolysis
production of glucose from noncarbohydrate
sources (e.g. amino acids, lipid)
Gluconeogenesis
inherited (i.e., genetic) disorder due to genetic anomalies
Inborn error
chemical or physical changes undergone by substances in a biological system
Metabolism
where the idea of IEM came from
GARRODʼS HYPOTHESIS
Sex-linked enzyme defect; most common
enzyme deficiency in the hexose
monophosphate shunt.
GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD)
DEFICIENCY
methodology is capable of screening for specific
substances associated with particular IEMs.
NEWBORN SCREENING TESTS
defect in the phenylalanine—tyrosine pathway
PHENYLALANINE-TYROSINE DISORDERS
- Most well known of the aminoacidurias
- When normal conversion of phenylalanine
to tyrosine is disrupted - lighter hair
and eyes—even in dark-skinned families - decreased production of tyrosine and its pigmentation
metabolite melanin
PHENYLKETONURIA (PKU)
failure to inherit the gene to produce enzyme
phenylalanine hydroxylase
Infants having liver conditions are required to produce
enzymes for tyrosine metabolism
TYROSYLURIA
- 2nd pathway in tyrosine metabolism
- Responsible for the production of melanin, thyroxine, epinephrine, protein, tyrosine sulfate
- Darkening of urine after its exposed to air
MELANURIA
pigment in hairs, skin, eyes
Melanin
Melanin is produced by
melanocytes
- Rare inherited autosomal recessive trait
- Failure to inherit the gene for the production of oxidative decarboxylation of these ketoacids leading to
accumulation in blood and urine
MAPLE SYRUP URINE DISEASE (MSUD)
- increased amounts of tryptophan are converted to
indole - reabsorbed from the intestine into the
bloodstream and circulated to the liver, where it is
converted to indican and then excreted in the urine
INDICANURIA
Hartnup Disease is also known as
blue diaper syndrome
2nd metabolic pathway of tryptophan is for the
production of serotonin in the stimulation of smooth
muscles
5-Hydroxyindoleacetic Acid (5-HIAA)
intermediate compounds in the production of heme
Porphyrin
3 primary porphyrins
Uroporphyrin, Coproporphyrin &
Protoporphyrin
group of inherited disorders characterized
by a block in the protoporphyrin pathway of heme
synthesis.
PORPHYRIAS
- located primarily in the connective tissue.
- Inherited disorders in the metabolism prevents the
complete breakdown of polysaccharide portion of
compounds, resulting in accumulation of incompletely
metabolized polysaccharide, increase in urine.
MUCOPOLYSACCHARIDE DISORDERS
thick, white turbidity forms is observed in these tests
Acid-albumin & cetyltrimethylammonium bromide
turbidity test
Findings of Hurler Syndrome
Abnormal skeletal structure
Findings of Hunter Syndrome
Severe mental retardation
mucopolysaccharides accumulate in
the cornea of the eye.
Hurler syndrome
sex-linked recessive
and is seen rarely in females
Hunter syndrome
- Excessive excretion of urinary uric acid crystals
- Failure to inherit the gene to produce hypoxanthine
guanine phosphoribosyltransferase (responsible for the
accumulation of uric acid throughout the body)
PURINE DISORDERS
Disorder in purine metabolism
Lesch-Nyhan Disease
increased urinary sugar
Melituria
inability to metabolize galactose to
glucose
Galactosuria
Deficiency in any of the following:
galactose-1-phosphate uridyl transferase (GALT),
galactokinase and UDP-galactose-4-epimerase
CARBOHYDRATE DISORDERS
