RH 14

DAY1
-Bilirubin is a breakdown product of hemoglobin that is conjugated in the liver
by glucuronyl transferase before it is excreted through the bile into the GI tra
ct.
Once bilirubin reaches the intestinal lumen, brush border enzymes deconj
ugate some of the bilirubin, which is then reabsorbed in a process known as
enterohepatic circulation. The remainder of the bilirubin is either oxid
ized by intestinal bacteria to urobilinogen which is excreted in the urine or
unoxidized bilirubin is passed in the stool, creating the normal yellow
color seen in neonatal stool.
-In the womb, the fetal liver has a hard time converting free unconjugated bilir
ubin to conjugated bilirubin, and erythrocyte life span is brief therefore more
unconjugated bilirubin is produced. Because of this, bilirubin is oxidiz
ed into biliverdin and unconjugated bilirubin is excreted into the amniotic flui
d
and transferred across the placenta.
-Galactosemia: classic galactosemia affects 1/30,000 to 1/60,000 live births. It
is autosomal recessive disorder with a deficiency in galactose-1-phosphate urid
yl
transferase (GALT) leading to a buildup of galactose-1-phosphate. The ga
lactose-1-phosphate will then be shunted towards the formation of galactitol, wh
ich
is toxic-->causes cataracts, hepatomegaly, splenomegaly, kidney damage e
tc.
-Galactosemia Type I: GALT deficiency, severe. (see above)
-Galactosemia Type II: galactokinase deficiency (GALK1), more rare than type I,
affected individuals only develop cataracts, few long term complications.
-Galactosemia Type III: UDP-galactose-4-epimerase deficiency (GALE). Rarest form
of galactosemia, varies from mild to severe.
-Beta Galactosidase deficiency: autosomal recessive, lysosomal storage disease k
nown as GM1-Gangliosidosis with abnormal storage of lipid in nerve cells. Sympto
ms
include neurodegeneration, seizures, hepatosplenomegaly, joint stiffness
, muscle weakness, and abnormal gait. Children may be deaf and blind by age 1 an
d
often die by age 3 from cardiac complications and pneumonia.
-Hereditary Fructose Intolerance: autosomal recessive. Deficiency in Aldolase B,
leading to the buildup of fructose-1-phosphate. This is wasting ATP and phospha
te,
and leads to vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly,
hyperuricemia, and potentially kidney failure.
-Essential Fructosuria: autosomal recessive, deficiency of hepatic fructokinase
and is a clinically benign condition. Cant breakdown fructose, so excrete it.
DAY2: GO OVER NEWBORN NUTRITION LECTURE
-Surplus galactose is reduced to galactitol or oxidized to galactonate. Even wit
h treatment and avoidance of galactose, patients develop substantial motor, cogn
itive,
and psychiatric impairments.