Inborn Errors

Question 1

What is AG formula?

Normal value?

Answer 1

Na - (hco3 + cl)

Normal is 8-12

Question 2

What disorder if metabolic acidosis with elevated ammonium?

Answer 2

Propionic acidemia
Methlymelonic acidemia
Fatty acid oxidation

Question 3

What disorders is metabolic acidosis and normal ammonium?

Answer 3

MSUD, organic acidemia a

methylmalonic acidemia, propionic acidemia, isovaleric acidemia

Question 4

What disorder with normal AG, elev ammonia?

Answer 4

Urea cycle defect

Transient hyperammonemia

Question 5

What disorder if normal AG and normal ammonia (nl ammonia is below 110 mcmol/L

Answer 5

Aminoacidopathy
Galactosemia
Non-Letitia hyperglycinemkia

Question 6

List fatty acid metabolism defects

Answer 6

VLCAD
mCAD
lCAD

Question 7

Infant whom presents with hypoglycemia, hepatomegaly after recent illness with dec PO?

Toddler whom has symptoms when fasting but okay in between?

Answer 7

Fatty acid metabolism

Dx NO reducing substances in urine, NO ketones, and normal serum amino acids
– plasma acylcarnitine profile

Question 8

Infant with hyperammonia, but no ketones or acidosis?

Was okay then developed hypotonia and coma?

Answer 8

Urea cycle defect

NO ketosis or acidosis!!

Question 9

Newborn infant with poor feeding, hepatomegaly, hypoglycemia, hypotonia
*Non-glc reducing substance in urine

Answer 9

Galactosemia

Question 10

What disorder is associated with Prolonged jaundice, GN rod E. coli sepsis

Answer 10

Galactosemia

Question 11

How do you dx galactosemia

What is tx

Answer 11

Galactosemia-1-phosphate activity in RBCs or erythrocytes (GALT)

Soy based formula

Question 12

What is drug of choice for refractory hypoglycemia in infants?

Answer 12

Diazoxide

Question 13

Which disease has hypoglycemia, large liver, doll like features/consanguinity, lactic acidosis with fasting, and elevated lactic/uric acid?

Answer 13

Type 1 glycogen storage dx (Von Gierke)

Question 14

What enzyme is def in Von gierks

What is tx

Answer 14

Hepatic glucose 6 phosphatase

Frequent snacks, continuous feeds of glucose Esp at night if under 2 or cornstarch

Question 15

What disease?
Infant becomes floppy, FTT, hepatomegaly, macroglossia at 1 month
Noted cardiomegaly and hard muscles on exam

Answer 15

Type 2 glycogen storage

Pompe

Question 16

Diagnosis?

1wk old w shallow breathing, lethargy and hypertonicity?

Answer 16

MSUD

Question 17

Diagnosis?
Downward dislocated lens, skeletal abnormalities and cognitive deficits.
Appears fair skinned.

Answer 17

Homocystinuria

Tx is high cystine diet and low methionine, may try pyridoximine

Question 18

Diagnosis associated with musty/mousy odor?

Answer 18

PKU

Can lead to vomiting, irritability, eczema
Microcephalic heart disease

Question 19

Diagnosis

Hirsuitism, thick skull, MR and corneal clouding?

Answer 19

Mps type 1

Hurlers

Question 20

What is hunters syndrome type 2 mps

Answer 20

Joint contractors pebbly skin rash on upper back

Short with deafness/HSM

Question 21

Dx?

HSM, bone pain, easy bruises and lyric lesions on X-ray

Answer 21

Gaucher

Question 22

Dx?
Normal until 9mo then lethargy, hypotonia, cherry red on retina and microcephalic
Blind, seizures then death by 5

Answer 22

Tay Sachs
Ashkenazi Jews!!
No HSM

Question 23

Dx?

Cherry red spot, CNS changed and HSM.

Answer 23

Neimann pick