What To Order

Question 1

Organic acidemia

Answer 1

Presents by DOL2
All labs are messed up! High KETONES and NH3 and LACTATE
Get urine organic acids

Question 2

Urea cycle

Answer 2

Will see hypotonia and maybe resp alkalosis
Only HIGH NH3 (in the hundreds)
Will have LOW ARGININE and LOW BUN
Restrict protein intake

Question 3

Fatty acid metabolism and mitochondrial disorders

Answer 3

Induced by stress and fasting
Order ammonia level!
NONKETOTIC HYPOglycemia
Treat with IV glucose
Check carnitine levels

Question 4

GSD 1 (Von Gierke)

Answer 4

Can’t break down glycogen so LOW GLUCOSE later in life - glucose 6 phosphatase deficiency
Will have ketones so ORDER THESE in the urine! Because they can break down fat
All the acidosis!
Organomegaly

Question 5

Maple syrup urine disease

Answer 5

Hypoglycemia + hyperammonemia + acidosis
Progress from day 1 and will be severe by 2-3 weeks of age

Question 6

Isovaleric acidemia

Answer 6

Sweaty feet smell and seizures with poor feeding

Question 7

Glutaric acidemia

Answer 7

Can present with subdural and retinal hemorrhages + frontal cortical atrophy and smelly feet smell

Question 8

Most common urea cycle defect

Answer 8

Ornithine transcarbamylase deficiency
X-linked!

Question 9

GSD II (Pompe)

Answer 9

In babies: floppy, hypotonic, FTT, macroglossia
Cardiomegaly from deposition in the heart!

Question 10

MPS I (Hurler)

Answer 10

Growth deceleration, coarse facial features, and corneal clouding

Question 11

MPS II (Hunter)

Answer 11

X-linked
Skeletal anomalies and growth deceleration

Question 12

Tay Sachs

Answer 12

Deficiency of hexosaminidase A
Develop normally until about 9 mo
Cherry red spot +
Organomegaly -

Question 13

Gaucher disease

Answer 13

Hepatomegaly + thrombocytopenia + osteosclerosis + lytic lesions

Question 14

Fabry disease

Answer 14

Opacities of the eye + angiokeratomas

Question 15

Niemann Pick

Answer 15

Sphingomyelinase deficiency
Neurological problems
Organomegaly +
Cherry red spot +