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APPEARANCE AT BIRTH
CAH
CH
NORMAL
GAL
NORMAL
PKU
NORMAL
G6PD
NORMAL
GOLDEN PERIOD
CAH
7 14 DAYS
CH
4 WEEKS
GAL
2 WEEKS
PKU
3 WEEKS
G6PD
UNSCREENED/UNTREATED
CAH
DEATH
CH
GAL
DEATH/Cataract
PKU
G6PD
GALACTOSEMIA
Galactose
Phenylketonuria
Phenylalanine
Tyrosine
G6PD DEFICIENCY
Function of G6PD
Certain food and drug have oxidant properties that causes cell
damage
Produce H2O2 and other reactive oxidizing products (OH+)
In the red blood cells (RBC), the only mechanism to neutralize
oxidative substances is through the G6PD activity
Without G6PD, RBCs undergo HEMOLYSIS when exposed to oxidative
stress!
Maple syrup urine disease (MSUD)
is a metabolism disorder passed down through families in which the
body cannot break down certain parts of proteins.
Urine in persons with this condition can smell like maple syrup.
SCREENING AND CONFIRMATORY TEST
DISORDERS
SCREENING TEST
CONFIRMATORY TEST
CAH
17 OHP
^ 17 OHP
CH
TSH
DEC. T4/INC.TSH
GAL
GALACTOSE
DEC. GALT
PKU
PHENYLALANINE
DEC. PAH
G6PD
G6PD
DEC. G6PD
TREATMENTS
DISORDERS
TREATMENTS
CAH
SUPPLEMENTATION
Glucocorticoids,
Mineralocorticoids,
NaCl
CH
SUPPLEMENTATION
Thyroid Hormone
GAL
AVOIDANCE
Galactose/Lactose
PKU
AVOIDANCE
Protein Diet
G6PD
AVOIDANCE