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RC: Specialties Woo Hoo > Metabolic > Flashcards

Metabolic Flashcards

1
Q

What basic bloodwork do you do for metabolic conditions?

A 
Gas
Lytes
Glucose
Ammonia
Lactate

note: hamilton 3 acute test: plasma a.a., plasma acylcarnitine, urine organic acid

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2
Q

Metabolic disorder= Lactic Metabolic acidosis (AG acid) + Normal or high ammonia. What type of metabolic dx?

A

Organic acidemia

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3
Q

++ Ammonia and normal gas. What type of metabolic dx?

A

Urea cycle defect

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4
Q

Normal ammonia
Normal AG.
What type of metabolic dx?

A

Aminoacidopathy or Galactosemia

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5
Q

How can you tell the diff between organic academia vs. urea cycle defect vs. amino acidopathy:

A

Organic Acid:
= AG Met Acid

Urea Cycle
= HI ammonia
Normal AG

A.A. or Galact
= Normal everything.

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6
Q

How do you diagnose organ acidemia?

A

Urine Organic Acid

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7
Q

How do you tx an organic acidemia?

A

Low protein diet from food (w/ food that don’t have certain a.a) BUT min. protein for growth

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8
Q

T or F: there are CBC changes with organic acidemia?

A

True.

  • neutropenia
  • thrombocytopenia
  • pancytopenia

… due to bone marrow suppression

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9
Q

what is the diff in urea cycle versus organic academia BW?

A

Organic academia:
AG + severe metabolic acidosis

Both can have ammonia +

Urea cycle:
normal AG. normal or alkalotic pH +/- Tachypnea w/ resp alkalosis. ICP.

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10
Q

What is galactosemia?

A

Deficiency in galactose- 1 - phosphate uridyl transferase

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11
Q

When does galactosemia usually present?

A

DOL 3-7 (once exposure to lactose containing milk)

CC: jaundice, big liver, vomit, low BG, FTT, sz, lethargy

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12
Q

What type of sepsis are kids with galactosemia at higher risk for?

A

E coli.

Neonatal Sepsis

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13
Q

What is screen and the dx test for galactosemia?

A

Prelim dx
= reducing substance in urine

Dx
= RBC enzyme assay looking for galactose 1 phosphate uridyl transferase deficiency
= DNA mutation in GALT gene

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14
Q

How do you tx galactosemia?

A

Non lactose containing milk substitute

= casein hydrolysate, soy bean based formula

+ Ca2+ supp

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15
Q

All long term risk are reversed with galactosemia tx?

A

False.

Still long term risk= ovarian failure, lower bone mineral density, DD, LD.

BUT you do reverse liver, renal and growth issue.

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16
Q

10 d with FTT, jaundice, hepatomegaly. BCX E coli. What disorder may child have? What test to confirm?

A

Galactosemia

Confirm:

  • erythrocyte GALT (galactose-1-phosphate-uridyl transferase activity) deficiency
  • DNA testing for GALT gene mutation
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17
Q

Hyper ammonia child. List 3 steps in management:

A

“Hydrate+ Substrate- Med- Dialysis”

  1. Rehydrate
    = stop protein catabolism in tissue
  2. Give Substrate=
    Fluid, Fat, Lytes
    = D10W, NaCL, lipids
    w/ min. amt of essential a.a.
  3. Priming doses then infusion of: “ABP”
    * > Arginine HCL
    * > Na benzoate
    * > Na phenyl acetate
  4. dialysis if tx above fails
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18
Q

T or F: VPA is drug of choice in kids with hyperammonemia if seizing:

A

False.

  • Increase ammonia
  • decrease urea cycle f’n
    = DO NOT USE.
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19
Q

Baby with hypoglycaemia. No ketones. 2 DDX:

A
  1. Hyperinsulinism
  2. F.a. Oxidation Defect (high f.a. on BW)
  3. Other (panhypopit, SGA, birth asphyxia)
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20
Q

3 day old. Lethargic. Worsening LOC. Coma. Intracranial HTN. Resp Alkalosis. Dx?

A

Urea cycle defect

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21
Q

Name one organic acidemia:

A

Methamelonic Acid

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22
Q

Name one urea cycle defect:

A

Weird Names…

CPS1= Carbamyl Phosphatase synthetase

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23
Q

Name one aminoacidopathy:

A
  • Maple Syrup Urine Disease

- PKU

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24
Q

IEM: Musty or mousy order.

A

PKU

Phenylketonuria

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25
Q

IEM: Maple Syrup smell

A

Maple Syrup Urine dx

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26
Q

What do you do if your newborn screen is (+) for PKU?

A

Order quantitive BLOOD phenylalanine level.

Don’t repeat screen; CONFIRM!

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27
Q

Phenylketonuria is inherited?

A

AR.

Carrier are unaffected.

28
Q

What type of inborn error of metabolism is PKU?

A

Aminoacidopathy.

Meaning ammonia, pH, AG all normal.

29
Q

List three traits of PKU:

A
  1. Fair skin + blue eyes.
  2. Microcephaly
  3. Musty odour (breath, skin odour)
  4. Growth retardation
  5. Intellectual impairment.
30
Q

How do you confirm dx of PKU?

A

Quantitive Blood phenylalanine level.

If > 120= Dx

OR altered phenylalanine/ tyrosine ratio in untreated state.

31
Q

How do you treat PKU?

A

Phenylalanine limited diet (PKU formula, diet modification, avoid aspartame)

+ Supplement tyrosine

32
Q

List 3 complications of maternal PKU:

A
  1. IUGR
  2. Intellectual impairment.
  3. DD
  4. Microcephaly
  5. CHD
33
Q

Screening BW for kid in shock with suspicion for IEM?

A
  • Lactate, ammonia VBG.

- Acetylcarnitine profile help dx f.a. oxidation defect

34
Q

6 mo. old w/ DD brought in shock. Now stable. Help with dx via:

  • CT
  • lactate, carnitine, ammonia
  • serum organic acid
  • urine a.a.
A

Lactate
Carnitine
Ammonia

35
Q

Which protein metabolism in IEM present as shock? What else is on DDX?

A

Organic Academia

  • High AG metabolic acidosis.

DDX: urea cycle defect, aminoacidopathy, galactosemia
DDX: infection, trauma, CNS anomaly

36
Q

What is the most common f.a. oxidation disorder?

A

MCAD Deficiency

= Medium chain acyl-CoA dehydrogenase deficiency

37
Q

T or F: MCAD typically has non ketotic hypoglycaemia AND no acidosis.

A

true.

38
Q

Abetalipoproteinemia causes all EXCEPT:

  • ataxia
  • hyperlipidemia
  • acanthocytosis
  • retinitis pigments
  • diarrhea + FTT
A

NO Hyperlipid.

Abeta-lipoproteinemia:

  • can’t make lipoprotein
  • intestinal bx show ++ lipid in enterocyte (fat stuck in wall)
  • low cholesterol, TG, ADEK
  • acanthocytosis (Spiked RBC smear), ataxia, loss of DTR, night blindness (pigmented retinopathy)
39
Q

Distal RTA. How do you remember it?

A

D1stal= Type 1= H+ is one letter
= collecting duct can’t excrete H+
= high urine pH
= low K, Ca2+ kidney stones

versus. Proximal= type 2= bicarb reabsorption lacking
= link w/ low phosphate rickets

40
Q

AG calculation:

A

Na- Cl- bicarb

Normal: 8-12

41
Q

Xray with VERY WHITE bones. Think of marble bones dx. Name?

A

Osteopetrosis.

= bone do not reabsorb (osteoclast issue)
= BW normal
except +/- pan cytopenia
Can #
XR: thick dense bone
42
Q

6 mo. old pale. irritable. XR show very white bone. Dx?

A

Osteopetrosis

43
Q

Cardiomegaly and hypoglycaemia. Like etiology:

  • cardiac lesion
  • sepsis
  • IEM
A

Inborn error of metabolism (IEM)

Think Pompe!

44
Q

What is Pompe disease?

A

Glycogen storage disease.

  • AR
45
Q

Classic ppt of Pompe:

A

Hypoglycaemia

Poor Tone

Feeding Issue

Big Liver

Hypertrophic cardiomyopathy

46
Q

Lethargic. Poor feed. Big liver. Normal ammonia, pH, lactate. Likely dx?

  • Maple Syrup
  • Propionic acidemia
  • Urea cycle defect
  • Galactosemia
A

Galactosemia

Propionic acid= organic acid= high ammonia + AG met acid

Urea cycle: high hmm + N pH or resp alk

Maple Syrup= Aminoacidopathy

  • poor feed, lethargic, athetoid (fence, cycling), spastic, sz
  • N pH + amm but ketoaciduria w/ high plasma a.a.
  • no hepatomegaly noted

Galactosemia
- carb metab issue
- jaundice
- hepatomegaly
- low BG
- lethargic, sz, irritable
- normal BW except liver problem, ++ plasma a.a.
- dx via RBC GALT deficient or gene mutation
Tx: non lactose containing milk substitute

47
Q

T or F: decreased LOC (encephalopathy) prior to focal neuro deficit or feature suggest inborn error of metabolism.

A

True.

48
Q

T or F: if suspect IEM and unsure of definitive dx it is fair game to give thiamine to prevent further sequelae?

A

False.

Give cofactors that may be missing in IEM
> Carnitine (organic academia, f.a., caritine def)
> B12 (cobalamin; organic acid)
> B6 (pyridoxine; for neo sz)
> Biotin (for neo recurrent sz for carboxylase def)

49
Q

Which coFactors can you give to prevent sequelae while waiting IEM dx?

A
  • Carnitine
  • B12
  • B6 (neo sz)
  • Biotine (neo sz)
50
Q

T or F: liver dysfunction is long term complication of MCAD (lipid metabolism defect).

A

True.

51
Q

Lang delay and inferior ectopia lentis. Dx?

A

Homocystinuria

“Downward IQ= Downward Lens”

52
Q

How do you dx homocystinuria?

A

Plasma a.a.

= elevated methionine or homocysteine in body fluid (urine or blood)

53
Q

What is downward lens= down IQ. Dx?

A

Homocystinuria.

Versus marfan
= upward dislocation= normal IQ.

54
Q

List 3 diff between marfan + homocysteinuria.

A

Marfan: AD
Homo: AR

Marfan: upward lens
Homo: downward (inferior ectopia lentis)

Marfan: normal IQ
Homo: low

Marfan: joint laxity
Homo: rigid

Marfan: Ao root dilation.
Homo: thromboembolism predisposition

Homo: tx w/ vitamin B6

55
Q

How do you decide which diseases to create screening test?

A
  1. Disease (natural hx allow tx, cure or halt complications if caught early)
  2. Test known
  3. Treatment (effective, $)
  4. Societal implications
56
Q

Which is best clue to probable genetic dx?

  • sibling died of unknown cause
  • fhx dementia
  • child adopted
  • hx cancer in distant relatives
  • parents first cousin
A

Sibling died of unknown cause > consanguinity.

57
Q

What inheritance pattern suggest mitochondrial disease?

A

Maternal inherit

i.e. mom and her mom have hearing loss + DM

NOTE: Boy + Girl affected
But boy can’t pass it on.

58
Q

T or F: lactate is usually UP in mitochondrial dx?

A

True

59
Q

T or F: poor response to glucagon hallmark of hyperinsulinemia?

A

False.

Exaggerated response key (i.e. 1.8 to 4)

60
Q

Workup for DD?

A
  1. Chromosomal Microarray
  2. Fragile X
  3. Hearing
  4. Metabolic: Lytes, gas, ammonia, BG, lactate, CK, LFT, CBC, a.a. serum, urine organic acid, acylcarnitine profile
  5. MRI if macro, microcephaly or neuro signs
61
Q

Metabolic crisis approach:

A

> Rehydrate
- ABC, resus, no dehydration

> Substrate

  • 2X D10NS + 20K
  • protein restrict
  • caloric restriction
  • megavitamins

> Meds

  • if known (ammonia ABP- arginine, Na benzoate, Na phenylactate)
  • Carnitine
  • B12 (met acidosis)
  • B6 or Biotin if neo sz

> Dialysis

62
Q

7 mon. VLCAD. Gastro. Mild dehydration. What do you start?

A

D10NS x 1.5 maintenance

** never give lipids to f.a. oxidation disorder.

63
Q

7 mon. VLCAD. What BW:

A 
Lytes
Glucose
BUN
Cr
**CK
(Rhabdo)
64
Q

2 y.o. developmental delay. ? liver enlargement. Which investigations FIRST:

  • Urine MPS
  • plasma MPS screen
  • Microarray
  • Plasma a.a
  • Plasma acylcarnitine profile.

If that’s normal- 2nd test?

A

Microarray

Urine mucopolysaccharide screen

= MPS= Enzyme replacement therapy
+ Bone marrow/stem cell transplant

65
Q

MCAD. Vomit and diarrhea. Next?

A

Stat BG

Start IV fluid w/ D10W

RC: Specialties Woo Hoo (31 decks)

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