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Pediatrics 101 > Metabolic > Flashcards

Metabolic Flashcards

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1
Q

Plasma amino acids

A

Amino Acid disorders

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2
Q

Urine organic acids

A

Organic Acid disorders

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3
Q

Plasma acyl carnitines

A

Fatty Acid Oxidation Disorders (also in some organic acid disorders)

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4
Q

New born screen uses

A

plasma aminoacids and plasma aycylcarnitines

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5
Q

Very long chain fatty acids

A

Peroxismal disorders

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6
Q

Urine glycosaminoglycans (GAG)

A

Mucopolysaccharidoses

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7
Q

Hyperammonemia + No acidosis

A

Urea cycle disorders
testing - plasma amino acids, Urine orotic acid
AG normal.

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8
Q

Hyperammonemia + acidosis + ketosis

A 
Organic acidemias (neutropenia, hypoglycemia) test- urine organic acids,
AG elevated
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9
Q

Hyperammonemia + acidosis + hypoglycemia (nonketotic)

A

Fatty Acid Oxidation Disorder

test - Plasma acylcarnitines

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10
Q

Vomiting, tachypnea, lethargy, coma, presenting in later half of first week of life.

A

Hyperamonemia

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11
Q

Elevated Anion Gap

A

lactic acidosis or organic acidemias

severe elevation may also be seen in sepsis or hypoxia due to lactate

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12
Q

Mx of Hyperamonemia

A
  1. Fluids
  2. D10 +/- insulin
  3. Na benzoate, Na phenylbutyrate
  4. Dialysis ( if > 500)
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13
Q

OTC ornithine transcarbamylase

A

X- linked, (more common)

Orotic acid elevated

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14
Q

CPS

Carbamoyl Phosphate Synthase

A

AR

Orotic acid normal/elevated

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15
Q

ASAS Argininosuccinic Acid Synthase

A

AR

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16
Q

ASAL Argininosuccinic Acid Lyase

A 
AR
Trichorrhexis nodosa (friable hair)
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17
Q

ARG Arginase

A

AR

Spasticity, may not have hyperammonemia

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18
Q

Hyperammnonemia long term effects

A

Developmental delay (proportional to how high and duration)

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19
Q

low BUN
elevated urine orotic acid,
abnormal plasma amino acids - low citrulline

A 
OTC deficiency (MC urea cycle defect), 
usually presents in infancy, females may be symptomatic (present in pregnancy),
20
Q

OTCD mx

Acute

A
  1. dialysis
  2. scavengers (Nabenzoate )
  3. glucose
21
Q

OTCD mx Long term

A
  1. protein restriction
  2. special formula
  3. scavenger therapy (Na phenylbutyrate)
22
Q

lethargy, hypothermia, irritability, seizures, coma

A

Hypoglycemia

23
Q

Hypoglycemia + Ketotic + Hi lactate

A

Glycogen storage disorder, type 1 (MC) and other metabolic disorders, hepatomegally

24
Q

Hypoglycemia + Ketotic + normal lactate

A

Other GSD, endocrine problems, ketotoc hypoglycemia

25
Q

Hypoglycemia + Ketotic + Hi lactate + severe hepatomegally

A

hereditary fructose intolerance, presents later in infancy more chronic presentation after you have fruits

26
Q

Hypoglycemia + Ketotic + Hi lactate + reducing substances

A

Galactosemia (presents in neonatal period + liver disease - die within few weeks of age)

27
Q

Hypoglycemia + Non-Ketotic + presents after fasting

A

Fatty acid oxidation disorder

28
Q

Hypoglycemia + Non-Ketotic + presents with feeding

A

Hyperinsulinism

  1. Diabetic mother
  2. BWS
  3. SGA baby
  4. Genetic - persistent
  5. Exogenous
29
Q

Hypoglycemia + Ketotic + Hepatomegally

cherubic or doll like facies, growth impairment

A

Hepatic Glycogen Storage disorders, (Ia Von Gierke, Ib, 3 Cori/Forbes, 4 Andersen, 5 Hers)
Dx- clinical + liver biopsy for enzyme/DNA
Rx- Cornstarch, Nocturnal enteral feeding. Liver transplant.

30
Q

Hypoglycemia + Ketotic + Weakness +/- Cramping (Rhabdomyolysis)

A

Muscle Glycogen Storage Disorder (2 Pompe, 5 Mcardle, 7 Tarui)
Dx- clinical + muscle biopsy for enzyme/DNA

31
Q

Hepatic Glycogen Storage disorders,

A 
Ia Von Gierke, - glucose 6-phosphatase
Ib - glucose 6-phosphatase transporter
3 Cori/Forbes - debrancher enzyme
4 Andersen - branching enzyme
5 Hers - liver phosphorylase/phosphorylase kinase
32
Q

Muscle Glycogen Storage Disorder

A

2 Pompe - alpha glucosidase (acid maltase)
5 McArdle - muscle phosphorylase
7 Tarui - muscle phosphofructokinase

33
Q

renal disease + bleeding diathesis + lactic acidosis + hyperuricemia + hypertriGlycerdiemia (like hepato-renal syndrome)

A

Ia Von Gierke, - glucose 6-phosphatase deficiency

34
Q

renal disease + bleeding diathesis + lactic acidosis + hyperuricemia + hypertriGlycerdiemia (like hepato-renal syndrome)
+ MUCOSAL ULCERATION (oral, intestinal, vaginal)
Neutropenia

A

Ib - glucose 6-phosphatase transporter deficiency

35
Q

GSD 1 (Ia and I b) more severe presentation because

A

GSD 1 patients cannot get protein

36
Q

skeletal myopathy, cardiomyopathy, hyperlipidemia, elevated transaminases

A

3 Cori/Forbes - debrancher enzyme deficiency

Can be 4 Andersen - branching enzyme deficiency or 5 Hers - liver phosphorylase/phosphorylase kinase deficiency

37
Q

severe failure to thrive. Progressive cirrhosis

A

4 Andersen - branching enzyme deficiency

38
Q

skeletal myopathy, cardiomyopathy, hyperlipidemia, elevated transaminases
hypoglycemia may not be present

A

5 Hers - liver phosphorylase/phosphorylase kinase deficiency

some forms X linked

39
Q

progressive muscle weakness, hypotonia, cardiomyopathy,

A

2 Pompe - alpha glucosidase (acid maltase) deficiency.

  • Lysosomal storage disease
  • fatal infantile –> slow progressive
  • Rx enzyme replacement therapy
40
Q 
muscle pain + cramping,
exercise intolerance
progressive weakness
Rhabdomyolysis
No lactate w/exercise
A

5 McArdle - muscle phosphorylase deficiency

41
Q

earlier onset + more severe (muscle pain, cramping, weakness, rhabdomyolysis)
compensated hemolytic anemia,

A

7 Tarui - muscle phosphofructokinase

Exercise intolerance worse after high carbohydrate meal

42
Q

severe hypoglycemia + liver disease + lactic acidosis in infancy

A

GSD 1

43
Q

don’t need the carnitine transport system

A

Medium Chain triglycerides (MCT oil)

44
Q

Hypoglycemia + Non-Ketotic + presents after fasting + liver disease + mild hyperamonemia

A

Medium Chain Acyl CoA Dehydrogenase Deficiency MCADD

- Caucasians - sudden death -

45
Q

Hypoglycemia + Non-Ketotic + presents after fasting + liver disease + mild hyperamonemia +
CARDIOMYOPATHY + RHABDOMYOLYSIS (teens) + RETINOPATHY

A

Long chain disorders enzyme deficiencies

  • Carnitine Palmitoyl Transferase type 1 (CPT1 Def.)
  • Long Chain 3-hydroxy-Acyl CoA Dehydrogenase (LCHAD Def)
  • Very long Chain Acyl CoA Dehydrogenase (VLCAD Def)
  • Carnitine transporter def. (primary carnitine def.)
  • Carnitine Acylcarnitine Transferase (CACT def.)
46
Q

Long Chain Fatty acid disorders Rx

A
  1. Avoid fasting
  2. Carnitine (if low) - esp in CTD
  3. Low fat diet
  4. MCT oil
47
Q

Medium Chain Acyl CoA Dehydrogenase Deficiency MCADD Rx

A
  1. fasting avoidance (especially during illness)
  2. low fat diet (glucose + butter)
    - Cant give MCT oil.

Pediatrics 101 (18 decks)

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