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Flashcards in Inborn Errors Deck (23):
1

What is AG formula?
Normal value?

Na - (hco3 + cl)

Normal is 8-12

2

What disorder if metabolic acidosis with elevated ammonium?

Propionic acidemia
Methlymelonic acidemia
Fatty acid oxidation

3

What disorders is metabolic acidosis and normal ammonium?

MSUD, organic acidemia a

(methylmalonic acidemia, propionic acidemia, isovaleric acidemia)

4

What disorder with normal AG, elev ammonia?

Urea cycle defect
Transient hyperammonemia

5

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

Aminoacidopathy
Galactosemia
Non-Letitia hyperglycinemkia

6

List fatty acid metabolism defects

VLCAD
mCAD
lCAD

7

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

Toddler whom has symptoms when fasting but okay in between?

Fatty acid metabolism

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

8

Infant with hyperammonia, but no ketones or acidosis?
Was okay then developed hypotonia and coma?

Urea cycle defect

NO ketosis or acidosis!!

9

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

Galactosemia

10

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

Galactosemia

11

How do you dx galactosemia
What is tx

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

Soy based formula

12

What is drug of choice for refractory hypoglycemia in infants?

Diazoxide

13

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

Type 1 glycogen storage dx (Von Gierke)

14

What enzyme is def in Von gierks

What is tx

Hepatic glucose 6 phosphatase

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

15

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

Type 2 glycogen storage
Pompe

16

Diagnosis?
1wk old w shallow breathing, lethargy and hypertonicity?

MSUD

17

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

Homocystinuria

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

18

Diagnosis associated with musty/mousy odor?

PKU



Can lead to vomiting, irritability, eczema
Microcephalic heart disease

19

Diagnosis
Hirsuitism, thick skull, MR and corneal clouding?

Mps type 1
Hurlers

20

What is hunters syndrome type 2 mps

Joint contractors pebbly skin rash on upper back
Short with deafness/HSM

21

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

Gaucher

22

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

Tay Sachs
Ashkenazi Jews!!
No HSM

23

Dx?
Cherry red spot, CNS changed and HSM.

Neimann pick