Metabolism

Question 0

Metabolic acidosis with normal NH4 (2 bigs)

Answer 0

1. MSUD

2. Organic acidemias

Question 1

Three disorders with elevated NH4 and metabolic acidosis?

Answer 1

1. Propionic Acidemia
2. Methylmalonic Acidemia
3. Fatty acid oxidation defects

Question 2

Normal ABG and metabolic looking kid, think what if also w/ high NH4?

Answer 2

Urea Cycle disorder

Question 3

Metabolic kid w/ normal ABG and normal NH4? (3)

Answer 3

1. aminoacidopathy
2. galactosemia
3. non-ketotic hyperglycinemia

Question 4

acidotic newborn, ketotic, high NH4

Next diagnostic step and dx?

Answer 4

Check urine organic acid levels: suspect organic acidemia

Question 5

blood issues you can see with organic acidemia?

Answer 5

low plt and low WBC

Question 6

lethargy, poor feeding, seizure, high incidence of infections, sweaty feet odor
Dx and tx?

Answer 6

Isovaleric Acidemia

Tx: protein restriction

Question 7

metabolic d/o with falling down, decr appetite, delayed milestones

Answer 7

organic acidemia

Question 8

no reducing substances in urine
ketones in urine
normal serum AAs
hepatomegaly, hypoglycemia

Answer 8

Fatty acid metab d/o

Question 9

Dx of fatty acid metab?

Answer 9

plasma acylcarnitine profile

Question 10

clue to fatty acid metab d/o w/ timing?

Answer 10

OCcurs w/ fasting, think kid w/ recent decr PO intake

Question 11

Hyperammonemia w/o acidosis?

Answer 11

Urea cycle defect

Question 12

may have respiratory alkalosis and lactic acidosis

sx free period, then hypotonia/coma

Answer 12

urea cycle defect

Question 13

Tx of acute w/ urea cycle defect?

Answer 13

reduce protein intake, incr glucose intake, prn dialysis

Question 14

metabolic d/o w/ propensity toward gram neg (E coli) infx?

Answer 14

Galactosemia

Question 15

kid who seizes so avoids sweets

Answer 15

inherited fructose intolerance

Question 16

positive reducing substances in urine?

Answer 16

galactosemia

Question 17

islet cell hyperplasia in what syndrome?

Answer 17

Beckwith Wiedemann

Question 18

hypoglycemia and hepatomegaly?

Answer 18

think galactosemia

Question 19

drug of choice for refractory hypoglycemia in infant?

Answer 19

diazoxide: decreases insulin secretion, stimulates cortisol release

Question 20

A good next test for infants w/ hypoglycemia, sz, hepatomegaly, FTT?

Answer 20

urine ketones and reducing substances

Question 21

lactic acidosis w/ high anion gap, rash, alopecia, neuro signs?
Dx and Tx?

Answer 21

Biotinidase deficiency: (BIO: Bald, Itchy rash, Out cold coma)
Tx w/ biotin supplementation

Question 22

hypertonic infant w/ tachypnea and shallow breathing, and lethargy in first week of life?

Answer 22

MSUD

Question 23

amino acids that are elevated in MSUD?

Answer 23

VIAL: valine, isoleucine, alloisoleucine, leucine

Question 24

homogentisic acid in urine in what disorder? | tx?

Answer 24

Alcaptonuria: dark diaper | tx w/ low phenylalanine and tyrosine

Question 25

dislocated lens, skeletal abnormality, cognitive issues Dx? Tx? (2)

Answer 25

homocystinuria: confirm homocystein in urine Tx: pyridoxine and then high cystine low methionine diet

Question 26

when should PKU screening be done

Answer 26

48-72 hrs after protein feed

Question 27

formula for PKU

Answer 27

lofenalac: low phenylalanine formula

Question 28

complication of PKU tx | what do they need supplementation w/?

Answer 28

overtx: lethargy, rash, diarrhea - phenylalanine def | Need tyrosine: becomes essential AA

Question 29

incr heparan sulfate in urine

Answer 29

San Filippo (MPS type III)

Question 30

adenosine deaminase deficiency

Answer 30

lesch nyhan

Question 31

doll like face, hypoglycemia, distended abdomen (large liver) Dx and cause

Answer 31

Glycogen Storage Disease type 1 | -defect in glucose-6-phosphatase

Question 32

lab findings in glycogen storage disease type 1

Answer 32

hypoglycemia, | High: lactic acid, uric acid, TG, cholesterol

Question 33

large tongue, large heart, respiratory failure, | floppy but hard muscles

Answer 33

Pompe disease

Question 34

defect in familial hypercholesterolemia

Answer 34

LDL receptor deficiency

Question 35

thin and long newborn, fat tissue resistant to insulin

Answer 35

congenital lipodystrophy

Question 36

skin nodules, painful joints in first week of life | cherry red spot in retina

Answer 36

Farber's disease (think Farmer picking cherries)

Question 37

large liver and spleen, calcified adrenal gland, fatty deposits Dx? Cause? lab findings?

Answer 37

Wolman disease defective lipoprotein metab TG and cholesterol esters in body tissue but normal plasma TG/cholesterol levels

Question 38

calcified enlarged adrenals

Answer 38

Wolman dz

Question 39

low serum copper and low serum ceruloplasmin, but HIGH Tissue copper

Answer 39

menkes

Question 40

true dx of Wilsons

Answer 40

liver bx

Question 41

orange colored skin lesions, eye opacity, kidney/heart/brain issue

Answer 41

Fabry disease (Lysosal lipid storage dz)

Question 42

What is krabbe?

Answer 42

demyelination w/ leukodystrophy, progressive neuro decline, death by 2y

Question 43

cherry red spot, CNS deterioration, HSM

Answer 43

Niemann Pick

Question 44

another thing to think of if positive PKU screen

Answer 44

BH4 def (coenyme tetrahydrobiopterin), also high phenylalanine levels can be transient, so repeat

Question 45

thin body habitus, scoliosis, posterior dislocated lens, cognitive impairment

Answer 45

homocystinuria

Question 46

tx of homocystinuria

Answer 46

pyridoxine

Question 47

type of lens dislocation in Marfan

Answer 47

anterior

Question 48

risk of what in homocystinuria?

Answer 48

PE, thrombi

Question 49

can treat some urea cycle defects w/ what?

Answer 49

arginine

Question 50

can treat some organic acidemias with what?

Answer 50

biotin

Question 51

methylmalonic acid responds to what?

Answer 51

B12

Question 52

Sjogren-Larsson syndrome - what is it - clinical presentation - dx?

Answer 52

inborn error of lipid metab "MRCP", seizures, photophobia, vision issues / dots on the retina, ichthyosis is key Dx: fatty alcohol: NAD oxidoreductase in cultured skin fibroblasts

Question 53

predisposition to severe hypoglycemia, coma lab shows hypoglycemia without ketonuria Acylcarnitine profile abnormal! what is the primary defect and treatment?

Answer 53

MCAD - medium chain acyl-coA dehydrogenase def | tx w/ freq feeding and carnitine

Question 54

treatment of MSUD?

Answer 54

restrict branch-chain amino acids / protein | Give thiamine B1

Question 55

Treatment of Non-ketotic hyperglycinemia

Answer 55

benzoate, valium, dextromethorphan

Question 56

Treatment of methylmalonic aciduria?

Answer 56

B12

Question 57

Treatment of homocystinuria?

Answer 57

Betaine, Folate, ASA

Question 58

Glucocerebrosidase def?

Answer 58

Gaucher disease

Question 59

Three types of Gaucher dz?

Answer 59

1: mild 2: acute neuronopathic 3: chronic neuronopathic

Question 60

defect in Gauchet's

Answer 60

glucocerebrosidase deficiency