Urine Screening for Metabolic Disorders Flashcards
disruption of a normal metabolic pathway that causes increased plasma concentrations of the nonmetabolized substances.
Overflow disorders
causes of overflow disorders
- Override the reabsorption ability of the renal tubules
- Not normally reabsorbed from the filtrate (present in
minute amts)
caused by malfunctions in the tubular reabsorption mechanism
Renal Disorders
Metabolic disturbances that produce overflow
Protein, Fat, Carbohydrate metabolism
cause for the disruption of enzyme function
failure to inherit the gene to produce a particular enzyme (called inborn error of metabolism or IEM)
used primarily to detect and monitor IEMs
Newborn Screening Tests
NBS in the Philippines expanded from
6 to 28 with initial 6 NBS test
6 initial NBS test includes:
- Congenital Hyperthyroidism
- Phenylketonuria
- Congenital adrenal hyperplasia
- Glucose-6 phosphate dehydrogenase (G6PD) deficiency
- Galactosemia
- Maple Syrup Disease
excessive thyroid hormones that could lead to growth failure and
intellectual disability
Congenital Hyperthyroidism
an inherited disorder where children cannot breakdown the
amino acid phenylalanine, which can lead to brain damage
Phenylketonuria
a group of genetic disorders affecting the adrenal glands –
structures that produce vital hormones. Babies with this condition lack one enzyme to make these vital hormones and are at risk of adrenal crisis, a life-threatening condition
Congenital adrenal hyperplasia
an inherited condition where babies lack the G6PD enzyme. This
can result in hemolytic anemia, which can be fatal when not
properly treated
Glucose-6 phosphate dehydrogenase (G6PD) deficiency
the inability to metabolize galactose, a type of sugar commonly found in breastmilk. This condition can be life-threatening if not treated early
Galactosemia
Like phenylketonuria, babies with this condition cannot metabolize
specific proteins. Infants with this condition have maple-smelling
urine. Left untreated, it can be fatal
Maple Syrup Disease
