Nutrition

Question 1

Essential fructosuria

Answer 1

fructokinase deficiency
benign
fructose in urine

Question 2

hereditary fructose intolerance

Answer 2

aldolase B deficiency

hypoglycemia, jaundice, cirrhosis, vomiting

Question 3

Galactokinase deficiency

Answer 3

galactosemia and galactosuria
infantile cataracts
benign

Question 4

classic galactosemia

Answer 4

galactose-1-phosphate uridyltransferase deficiency
failure to thrive, intellectual disability,
jaundice, hepatomegaly
infantile cataracts

Question 5

Phenylketonuria

Answer 5

↓ phenylalanine hydroxylase or tetrahydrobiopterin
intellectual disability, seizures
musty body odor

tx: ↑ tyrosine in diet and avoid phenylalanine.

Question 6

Maple syrup urine disease

Answer 6

blocked degradation of branched chain amino acids
Isoleucine, Lecuine, Valine
↓branched-chain α-ketoacid DH causes ↑ α-ketoacidemia

vomiting
maple syrup urine
severe CNS effects

Question 7

Homocysteinuria vs

Cysteinuria

Answer 7

HOMOCY
Homocysteinuria
Osteoporosis
Marfinoid habitus
Ocular changes (lens subluxation)
Cardiovascular (thrombosis and atherosclerosis)
kYphosis

Cysteinuria
just causes hexagonal kidney stones

Question 8

Von Gierke disease

Answer 8

Glucose-6-P deficiency → impairs glycogenolysis
severe fasting hypoglycemia
can cause gout, hepatomegaly, renomegaly

Question 9

Pompe disease

Answer 9

Lysosomal acid α-1,4-glucosidase decifiency

Cardiomegaly, hypertrophic cardiomyopathy → death

Question 10

Cori disease

Answer 10

α-1,6-glucosidase (debranching enzyme) deficiency

milder form of von gierke disease

Question 11

McArdle disease

Answer 11

skeletal muscle glycogen phosphorylase deficiency

muscles can’t break down glycogen → cramps

Question 12

Tay-Sachs

Answer 12

↓ hexoasaminidase A
neurodegeneration
cherry red spot on macula
no hepatoplenomegaly

Question 13

Fabry disease

Answer 13

↓ α-galactosidase A
peripheral neuropathy
angiokeratoma
hypohidrosis (↓ sweat)
renal failure
cardiovascular disease

Question 14

Gaucher disease

Answer 14

↓ glucocerebrosidase
hepatosplenomegaly
pancytopenia
avascular femur necrosis
bone crises
Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)

Question 15

Niemann-Pick disease

Answer 15

↓sphingomyelinase
neurodegeneration
hepatosplenimegaly
foam cells
cherry red spot on macula

Question 16

Hunter vs Hurler syndrome

Answer 16

Hunter → iduronate-2-sulfatase
Hurler → α-L-iduronidase

Hunter → mild hurler syndrome
aggressive behavior, no corneal clouding

Hurler
developmental delay, gargoylism
corneal clouding
hepatosplenmegaly
airway obstruction

Question 17

Gilbert syndrome

Answer 17

Mild ↓ UDP-glucuronosyltransferase
↑ unconjugated bilirubin
mild jaundice with stress, illness, or fasting
benign

Question 18

Crigler-Najjar syndrome

Answer 18

Type 1: Absent UDP -glucoronosyltransferase
↑ unconjugated bilirubin
jaundice, kernicterus (brain bilirubin deposition)
needs liver transplant

Type 2: less severe, responds to phenobarbital

Question 19

Dubin Johnson syndrome

Answer 19

conjugated bilirubinemia due to defective liver excretion
Black liver
benign

Question 20

Rotor syndrome

Answer 20

conjugated bilirubinemia due to impaired hepatic uptake and excretion
Regular appearing liver (not black like dubin-johnson)

Question 21

Wilson disease

Answer 21

Copper accumulates in liver, brain and eyes
Kayser-fleischer rings in cornea
defects in copper-transporting ATPase
ATP7B gene, chromosome 13

Question 22

Hemochromatosis

Answer 22

Iron accumulates in body
HFE gene mutations (chromosome 6)
HLA-A3

Question 23

Alkaptonuria

Answer 23

Homogentisate oxidase deficiency
blue-black connective tissue in ear, eye
arthralgias