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