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Laughing Pedi > Metabolism > Flashcards

Metabolism Flashcards

0
Q

Metabolic acidosis with normal NH4 (2 bigs)

A
  1. MSUD

2. Organic acidemias

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1
Q

Three disorders with elevated NH4 and metabolic acidosis?

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

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

A

Urea Cycle disorder

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3
Q

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

A
  1. aminoacidopathy
  2. galactosemia
  3. non-ketotic hyperglycinemia
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4
Q

acidotic newborn, ketotic, high NH4

Next diagnostic step and dx?

A

Check urine organic acid levels: suspect organic acidemia

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5
Q

blood issues you can see with organic acidemia?

A

low plt and low WBC

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6
Q

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

A

Isovaleric Acidemia

Tx: protein restriction

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7
Q

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

A

organic acidemia

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8
Q

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

A

Fatty acid metab d/o

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9
Q

Dx of fatty acid metab?

A

plasma acylcarnitine profile

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10
Q

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

A

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

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11
Q

Hyperammonemia w/o acidosis?

A

Urea cycle defect

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12
Q

may have respiratory alkalosis and lactic acidosis

sx free period, then hypotonia/coma

A

urea cycle defect

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13
Q

Tx of acute w/ urea cycle defect?

A

reduce protein intake, incr glucose intake, prn dialysis

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14
Q

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

A

Galactosemia

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15
Q

kid who seizes so avoids sweets

A

inherited fructose intolerance

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16
Q

positive reducing substances in urine?

A

galactosemia

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17
Q

islet cell hyperplasia in what syndrome?

A

Beckwith Wiedemann

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18
Q

hypoglycemia and hepatomegaly?

A

think galactosemia

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19
Q

drug of choice for refractory hypoglycemia in infant?

A

diazoxide: decreases insulin secretion, stimulates cortisol release

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20
Q

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

A

urine ketones and reducing substances

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21
Q

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

A

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

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22
Q

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

A

MSUD

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23
Q

amino acids that are elevated in MSUD?

A

VIAL: valine, isoleucine, alloisoleucine, leucine

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24
Q

homogentisic acid in urine in what disorder?

tx?

A

Alcaptonuria: dark diaper

tx w/ low phenylalanine and tyrosine

25
Q

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

A

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

26
Q

when should PKU screening be done

A

48-72 hrs after protein feed

27
Q

formula for PKU

A

lofenalac: low phenylalanine formula

28
Q

complication of PKU tx

what do they need supplementation w/?

A

overtx: lethargy, rash, diarrhea - phenylalanine def

Need tyrosine: becomes essential AA

29
Q

incr heparan sulfate in urine

A

San Filippo (MPS type III)

30
Q

adenosine deaminase deficiency

A

lesch nyhan

31
Q

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

A

Glycogen Storage Disease type 1

-defect in glucose-6-phosphatase

32
Q

lab findings in glycogen storage disease type 1

A

hypoglycemia,

High: lactic acid, uric acid, TG, cholesterol

33
Q

large tongue, large heart, respiratory failure,

floppy but hard muscles

A

Pompe disease

34
Q

defect in familial hypercholesterolemia

A

LDL receptor deficiency

35
Q

thin and long newborn, fat tissue resistant to insulin

A

congenital lipodystrophy

36
Q

skin nodules, painful joints in first week of life

cherry red spot in retina

A

Farber’s disease (think Farmer picking cherries)

37
Q

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

A

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

38
Q

calcified enlarged adrenals

A

Wolman dz

39
Q

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

A

menkes

40
Q

true dx of Wilsons

A

liver bx

41
Q

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

A

Fabry disease (Lysosal lipid storage dz)

42
Q

What is krabbe?

A

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

43
Q

cherry red spot, CNS deterioration, HSM

A

Niemann Pick

44
Q

another thing to think of if positive PKU screen

A

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

45
Q

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

A

homocystinuria

46
Q

tx of homocystinuria

A

pyridoxine

47
Q

type of lens dislocation in Marfan

A

anterior

48
Q

risk of what in homocystinuria?

A

PE, thrombi

49
Q

can treat some urea cycle defects w/ what?

A

arginine

50
Q

can treat some organic acidemias with what?

A

biotin

51
Q

methylmalonic acid responds to what?

A

B12

52
Q

Sjogren-Larsson syndrome

  • what is it
  • clinical presentation
  • dx?
A

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

53
Q

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

A

MCAD - medium chain acyl-coA dehydrogenase def

tx w/ freq feeding and carnitine

54
Q

treatment of MSUD?

A

restrict branch-chain amino acids / protein

Give thiamine B1

55
Q

Treatment of Non-ketotic hyperglycinemia

A

benzoate, valium, dextromethorphan

56
Q

Treatment of methylmalonic aciduria?

A

B12

57
Q

Treatment of homocystinuria?

A

Betaine, Folate, ASA

58
Q

Glucocerebrosidase def?

A

Gaucher disease

59
Q

Three types of Gaucher dz?

A

1: mild
2: acute neuronopathic
3: chronic neuronopathic

60
Q

defect in Gauchet’s

A

glucocerebrosidase deficiency

Laughing Pedi (24 decks)

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