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2019 RC Specialties > Metabolic > Flashcards

Metabolic Flashcards

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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 (proprionic acidemia, methylmalonic acidemia or glutaric acidemia)

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3
Q

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

A

Urea cycle defect (OTC, Citriulinemia, Arginosuccinic acidemia)

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4
Q

Normal ammonia
Normal AG.
What type of metabolic dx?

A

Aminoacidopathy (MSUD, PKU, Homocystinuria) 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 tx an organic acidemia?

A 
Acute:
STOP Protein intake
IV Dextrose 10% with NaCl
Correct metabolic acidosis
IV lipid emulsion
\+/- Dialysis

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

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7
Q

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

A 
True.
Nelson's talks about this re: proprionic acidemia
- neutropenia
- thrombocytopenia
- pancytopenia

… due to bone marrow suppression

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8
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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9
Q

What is galactosemia?

A

Deficiency in galactose- 1 - phosphate uridyl transferase

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10
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, nuclear cataracts

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11
Q

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

A

E coli.

Neonatal Sepsis

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12
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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13
Q

How do you tx galactosemia?

A

Non lactose containing milk substitute

= casein hydrolysate, soy bean based formula

+ Ca2+ supp

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14
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 and cataracts

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15
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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16
Q

Hyperammonia child. List 3 steps in management:

A

“Hydrate+ Substrate- Med- Dialysis”
STOP PROTEIN

  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/phenylacetat (ammonia scavengers)
  4. dialysis if tx above fails
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17
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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18
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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19
Q

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

A

Urea cycle defect

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20
Q

Name one organic acidemia:

A 
Methamelonic Acidemia, proprionic acidemia, 
glutaric acidemia (the hard to Dx one with macrocephaly and mvmt d/o when unwell, subdural hematoma)

Previously Well child, presents with weakness, lethargy, coma
Classic Lab Findings:
Metabolic Acidosis with high AG
Mild - Moderate Ammonia elevation
High Ketones
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21
Q

Name one urea cycle defect:

A

Ornithine Transcarbamylase deficiency (OTC)
Citrulinemia
Arginosuccinic aciduria

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22
Q

Name one aminoacidopathy:

A
  • Maple Syrup Urine Disease
  • PKU
  • Homocystinuria (Marfanoid-like, thrombosis problems)
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23
Q

IEM: Musty or mousy order.

A

PKU = Phenylketonuria

Autosomal Recessive
Normal Ammonia. Normal pH.
Presentation : 
Fair skin and hair
Eczema
Light Sensitivity
Hair Loss
Untreated - Mousy Odor, Epilepsy, Eye abnormalities (hypopigmentation), SEVERE ID
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24
Q

IEM: Maple Syrup smell

A

Maple Syrup Urine Disease

Autosomal Recessive
Presentation: Baby 3-5 days with poor feeding, irregular respirations, hard to arouse, coma, death

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25
What do you do if your newborn screen is (+) for PKU?
Order quantitive BLOOD phenylalanine level. Don't repeat screen; CONFIRM!
26
Phenylketonuria is inherited?
AR. Carrier are unaffected.
27
What type of inborn error of metabolism is PKU?
Aminoacidopathy. | Meaning ammonia, pH, AG all normal.
28
List three traits of PKU:
1. Fair skin + blue eyes. 2. Microcephaly 3. Musty odour (breath, skin odour) 4. Growth retardation 5. Intellectual impairment. 6. Eczema 7. Light sensitivity 8. Hair loss
29
How do you confirm dx of PKU?
Quantitive Blood phenylalanine level. If > 120= Dx OR altered phenylalanine/ tyrosine ratio in untreated state.
30
How do you treat PKU?
Phenylalanine limited diet (PKU formula, diet modification, avoid aspartame) + Supplement tyrosine
31
List 3 complications of maternal PKU:
1. IUGR 2. Intellectual impairment. 3. Developmental delay 4. Microcephaly 5. CHD
32
Screening BW for kid in shock with suspicion for IEM?
- Lactate, ammonia, VBG, glucose, electrolytes | - Acetylcarnitine profile help dx f.a. oxidation defect
33
6 mo. old w/ DD brought in shock. Now stable. Help with dx via: a. CT b. lactate, carnitine, ammonia c. serum organic acid d. urine a.a.
Lactate Carnitine Ammonia
34
Which protein metabolism in IEM present as shock? What else is on DDX?
``` Organic Academia (proprionic, glutaric, methylmalonic, etc) - High AG metabolic acidosis. ``` DDX: urea cycle defect, aminoacidopathy, galactosemia DDX: infection, trauma, CNS anomaly
35
What is the most common f.a. oxidation disorder?
MCAD Deficiency = Medium chain acyl-CoA dehydrogenase deficiency
36
T or F: MCAD typically has non ketotic hypoglycaemia AND no acidosis.
true.
37
Abetalipoproteinemia causes all EXCEPT: - ataxia - hyperlipidemia - acanthocytosis - retinitis pigments - diarrhea + FTT
NO Hyperlipid. ---> think A ... (as in missing)... lipo..... Abetalipoproteinemia: - severe fat malabsorption - 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 (secondary to Vitamin E deficiency), night blindness (pigmented retinopathy)
38
Distal RTA. How do you remember it?
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
39
AG calculation:
(Na+) - (Cl-) - (HCO3-) Normal: 8-12
40
Xray with VERY WHITE bones. Think of marble bones dx. Name?
OsteoPETROSIS = bone do not reabsorb (osteoclast issue) / remodel ANEMIA with extra medullary hematopoiesis in liver and spleen = hepatosplenomegaly Optic and facial nerve problems b/c bone no change = deafness and blindness Can #
41
6 mo. old pale. irritable. XR show very white bone. Dx?
Osteopetrosis
42
Cardiomegaly and hypoglycaemia. Like etiology: - cardiac lesion - sepsis - IEM
Inborn error of metabolism (IEM) Think Pompe!
43
What is Pompe disease?
Glycogen storage disease. | - AR
44
Classic ppt of Pompe:
``` Poor Tone Feeding Issue Big Liver Hypertrophic cardiomyopathy High CK NO hypoglycaemia, no aciduria. ```
45
Lethargic. Poor feed. Big liver. Normal ammonia, pH, lactate. Likely dx? - Maple Syrup - Propionic acidemia - Urea cycle defect - Galactosemia
Galactosemia - galactose-1-phosphate uridyltransferase - jaundice - hepatomegaly - low BG - lethargic, sz, irritable - coagulopathy - normal BW except liver problem, ++ plasma a.a. - dx via RBC GALT deficient or gene mutation Tx: non lactose containing milk substitute Maple Syrup= Aminoacidopathy - poor feed, lethargic, athetoid (fence, cycling), spastic, sz - N pH + amm but ketoaciduria w/ high plasma a.a. - no hepatomegaly noted Propionic acid= organic acid= high ammonia + AG met acid Urea cycle: high hmm + N pH or resp alk
46
T or F: decreased LOC (encephalopathy) prior to focal neuro deficit or feature suggest inborn error of metabolism.
True.
47
T or F: if suspect IEM and unsure of definitive dx it is fair game to give thiamine to prevent further sequelae?
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)
48
Which coFactors can you give to prevent sequelae while waiting IEM dx?
- Carnitine - B12 - B6 (neo sz) - Biotine (neo sz)
49
T or F: liver dysfunction is long term complication of MCAD (lipid metabolism defect).
True.
50
Lang delay and inferior ectopia lentis. Dx?
Homocystinuria "Downward IQ= Downward Lens"
51
How do you dx homocystinuria?
Plasma a.a. | = elevated methionine or homocysteine in body fluid (urine or blood)
52
What is downward lens= down IQ. Dx?
Homocystinuria. Versus marfan = upward dislocation= normal IQ.
53
List 3 diff between marfan + homocysteinuria.
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
54
How do you decide which diseases to create screening test?
1. Disease (natural hx allow tx, cure or halt complications if caught early) 2. Test known 3. Treatment (effective, $) 4. Societal implications
55
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
Sibling died of unknown cause > consanguinity.
56
What inheritance pattern suggest mitochondrial disease?
Maternal inherit i.e. mom and her mom have hearing loss + DM NOTE: Boy + Girl affected But boy can't pass it on.
57
T or F: lactate is usually UP in mitochondrial dx?
True
58
T or F: poor response to glucagon hallmark of hyperinsulinemia?
False. Exaggerated response key (i.e. 1.8 to 4)
59
Workup for DD?
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
60
Metabolic crisis approach:
>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
61
7 mon. VLCAD. Gastro. Mild dehydration. What do you start?
D10NS x 1.5 maintenance ** never give lipids to f.a. oxidation disorder.
62
7 mon. VLCAD. What BW:
``` Lytes Glucose BUN Cr **CK (Rhabdo) ```
63
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?
Microarray Urine mucopolysaccharide screen = MPS= Enzyme replacement therapy + Bone marrow/stem cell transplant
64
MCAD. Vomit and diarrhea. Next?
Stat BG | Start IV fluid w/ D10W

2019 RC Specialties (31 decks)

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