Exam 3-preterm Sizes

Question 0

ELBW

Answer 0

<1000 g (1 kg)

Question 1

LBW

Answer 1

<2500 grams (2.5 kg)

Question 2

Preterm/premature

Answer 2

<38 weeks

Question 3

VLBW

Answer 3

<1500 g (1.5 kg)

Question 4

SGA

Answer 4

Proper length of gestation time but small weight (40 week and 2400g)
=smoker

Question 5

LGA

Answer 5

Preterm with a normal birth weight

=diabetic mother

Question 6

Galactosemia
Deficient enzyme
Problem
Fix

Answer 6

Galactose-1-P uridyl transferase
Failure to thrive, jaundice, renal
Soy formula, no galactose

Question 7

Von Gierke’s Disease
Deficient enzyme
Problems
Fix

Answer 7

Bad gluconeogenesis and gycogenolysis
Glucose-6-phosphatase
Fail to thrive, hypoglycemia
Give glucose between meals

Question 8

Phenylketonuria
Deficiency
Problem
Fix

Answer 8

Phenyl alanine hydroxylase
Mental retardation
Increase tyrosine in diet

Question 9

Cobalamin responsive methylmalonic acidemia
Defect
Problem
Fix

Answer 9

Methylmalonyl CoA mutase Methyltetrahydofolatehomocysteine methyl transferase
Fail to thrive
Treat with cobalamin B12

Question 10

Hartnup Disease
Deficient
Problem
Fix

Answer 10

aa absorption, transport, excretion—low nicotinic acid made
Pellagra because no NADH
Give dose of nicotinic acid

Question 11

Homocysteinuria
Deficient
Problem
Fix

Answer 11

Cystathionine synthase (CBS)
Mental retardation. 
Restrict Met, give cystine, dose of PLP

Question 12

Maple syrup urine disease
Deficient
Problem
Fix

Answer 12

Alpha keto acid decarboxylase…BCKA dehydrogenase (TPP dependent)
Energy problem
tPP treatment

Question 13

Propionic Acidemia
Deficient
Problem
Fix

Answer 13

Propionyl CoA carboxylase (biotin dependent)
Tired, seizures, retardation
Dose of biotin, low protein diet