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Neonatal Board Questions > IEM and Thermal > Flashcards

IEM and Thermal Flashcards

1
Q

Metabolic acidosis with inc AG

A 
***Organic acidemias or FAOD
Check ketones --> 
Low --> FAOD
High --> Organic acidemia
(Can also be lactic acidosis ie. pyruvate dehydrogenase and carboxylase deficiencies, some mitochondrial disorders, GSD, hereditary fructose etc.)
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2
Q

Respiratory alkalosis

A

Urea cycle defect

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3
Q

Ketotic hyperglycinemia

A

Propionate pathway abnormalities

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4
Q

Hypoketotic hypoglycemia

A 
Fatty acid breakdown ie. MCAD, LCHAD
Carnitine deficiency
(starvation, can not produce glucose by fat breakdown, so body relies on carbohydrate breakdown which is not enough --> hypoglycemia; and no ketones because no breakdown of fat)
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5
Q

Male cat odor in urine

A

3-methylcrotonyl glycinuria

Multiple carboxylase deficiency

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6
Q

Musty odor urine

A

PKU

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7
Q

Acetonuria

A

Organic acidemias

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8
Q

Urine ketones

A

Organic acidemias, glycogen storage disease

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9
Q

Enzyme deficiency in Galactosemia

A

Galactose 1 phosphate uridyl transferase (GALT)

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10
Q

Reducing substances in urine

A

Galactosemia, Fructosemia or Tyrosinemia

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11
Q

Elevated galactose 1 phosphate

A

Galactosemia

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12
Q

Enzyme deficiency in Type I GSD Von Gierke

A

Glucose 6 phosphatase - MC GSD

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13
Q

Enzyme deficiency in Type II GSD Pompe

A

Lysosomal alpha- glucosidase

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14
Q

GSD with lactic acidosis

A

Type 1, Von Gierke

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15
Q

Lab abnormality in Type II GSD Pompe

A

Increased creatinine phosphokinase

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16
Q

Enzyme deficiency in fructosemia

A

Fructose 1 phosphate aldolase

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17
Q

Symptoms begin after introducing cows formula

A

Fructosemia (vs. galactosemia sxs with BM)
Cow’s formula has sucrose
Also sxs after introduction fruit and veggies

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18
Q

Elevated urine orotic acid

A

Ornithine carbamyl transferase (UCD)

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19
Q

Low urine orotic acid

A

N- acetylglutamate synthetase (UCD)

Carbamyl phosphate synthetase (UCD)

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20
Q

High citrulline and urine orotic acid

A

Citrullinemia, defect in arginosuccinic acid synthetase
or Arginisoccinic aciduria, defect in arginosuccinic lyase (UCD)
Both have brittle hair

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21
Q

High arginine and urine orotic acid

A

Arginase deficiency –> argininemia

Typically presents with spastic diplegia

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22
Q

Enzyme deficiency in MSUD

A

Ketoacid dehydrogenase (require thiamin)

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23
Q

Enzyme deficiency in PKU

A

Phenylalanine hydroxylase (converts Phenylalanine to Tyrosine)

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24
Q

Increased Phenylalanine to Tyrosine ratio

A

PKU

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25
Q

Microcephaly, IUGR, CHD, mental deficiency

A

Neonatal findings with uncontrolled Maternal PKU

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26
Q

Enzyme deficiency in Tyrosinemia type 1

A

Fumarylacetoacetate hydrolase

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27
Q

Succinylacetone in urine

A

Tyrosinemia Type 1

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28
Q

downward dislocated lens

A

Homocystinuria

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29
Q

Upward dislocated lens

A

Marfan syndrome

30
Q

Hiccups

A

Non ketotic hyperglycinemia

defect in glycine cleavage pathway

31
Q

Elevated glycine

A

Non ketotic hyperglycinemia (defect in glycine cleavage pathway)
Propionate pathway abnormalities

32
Q

Elevated CSF to plasma glycine ratio

A

Non ketotic hyperglycinemia

defect in glycine cleavage pathway

33
Q

Enzyme deficiency in Isovaleric aciduria

A

Isovaleryl CoA dehydrogenase

34
Q

Hyperammonemia + AG MA

A

Organic acidemias (XS acid inhibits urea cycle so leads to increased hyperammonemia)

35
Q

Sweaty feet odor

A

Isovaleric academia or glutaric aciduria type 2 (Organic acidemia)

36
Q

Enzyme deficiency in Propionic aciduria

A

Propionyl-CoA carboxylase (Organic acidemia)

*requires biotin

37
Q

Enzyme deficiency in methylmalonic aciduria

A

Methylmalonyl-CoA isomerase (Organic acidemia)

*Requires Cobalamin/Vitamin B12

38
Q

Increased C3 acylcarnitine

A

Propionate pathway abnormalities (Organic acidemia)

Propionyl CoA = C3

39
Q

Frontotemporal atrophy

A

Glutaric aciduria type 1 (Organic acidemia)

40
Q

MC FAOD

41
Q

Increased C8

42
Q

Enzyme deficiency in LCHAD

A

3-hydroxyacyl CoA dehydrogenase

43
Q

Dysostosis multiplex

A

Pathognomic of mucopolysaccharoidoses

Thickening of bones

44
Q

Cherry red spot

A

Nienmann Pick and Tay sachs (Lysosomal storage disease, Lipidoses)
(Pathognomonic of lipid storage disease that affects the CNS)

45
Q

X-linked lipidoses

A

Fabry disease (Lysosomal storage disease, Lipidoses)

46
Q

Foam cells in bone marrow

A

Nienmann Pick (sphingomyelinase deficiency) (Lysosomal storage disease, Lipidoses)

47
Q

Enzyme deficiency in Gaucher disease

A

Glucocerebrosidase

Lysosomal storage disease, Lipidoses

48
Q

Enzyme deficiency in Nienmann Pick disease

A

Sphingomeylinase (put your sphinger in your nose)

(Lysosomal storage disease, Lipidoses)

49
Q

Cherry red spot without HSM

A

Tay Sachs
(Nienmann pick has HSM)
(Lysosomal storage disease, Lipidoses)

50
Q

Cloudy cornea

A

Hurler
(Hunter needs to see)
(Lysosomal storage disease, mucopolysacchhroidosis)

51
Q

X-linked mucopolysacchhroidosis

A

Hunter (X marks the spot)

Lysosomal storage disease, mucopolysacchhroidosis

52
Q

Enzyme deficiency in Hurler

A

Lysosomal alpha-iduronidase

Lysosomal storage disease, mucopolysacchhroidosis

53
Q

Enzyme deficiency in Hunter

A

Iduronidase 2-sulfatase (Lysosomal storage disease, mucopolysacchhroidosis)

54
Q

Elevated pyruvate and lactate

A

Pyruvate dehydrogenase complex deficiency
(Mitochondrial disorder) or
Pyruvate carboxylase deficiency (AR mitochondrial disorder)

55
Q

Pyruvate carboxylase requires what

A

Biotin

(AR mitochondrial disorder)

56
Q

Low hydroxybutyrate/acetoaccetate ratio

A

Pyruvate carboxylase deficiency (AR mitochondrial disorder)

57
Q

Cystic PVL

A

Pyruvate carboxylase deficiency (AR mitochondrial disorder)

“CarboxYlaSe = CYStic, PVl = PyruVate”

58
Q

Low ceruloplasmin levels

A

Wilson disease (decreased copper into ceruloplasmin and abnormal copper deposition)

59
Q

Brittle, kinky, telly hair

A

Menkes disease (defect in copper membrane transport channel –> poor absorption)

60
Q

Wormian bones

A

Menkes disease (defect in copper membrane transport channel –> poor absorption)

61
Q

Hepatocerebrorenal disease

A

Zellweger spectrum

62
Q

Increased C26

A 
(C26= Very long chain fatty acid)
Zellweger spectrum (Hepatocerebrorenal disease)
63
Q

Humidity decreases which heat loss

A

Evaporative

64
Q

plastic heat shields decrease which heat loss

65
Q

Double walled incubators decrease which heat loss

66
Q

Portholes decrease which heat loss

A

Convective

67
Q

Rubber foam or exothermic mattress decreases which heat loss

A

Conductive

68
Q

Plastic wrap decreases which heat loss

A

Evaporative and Convective

69
Q

Neonate decreased response to cooling because:

A

Minimal subcutaneous fat and immature nervous system

70
Q

SA to body weight ratio in neonate

A

3 x adult –> Increased heat loss

71
Q

Thermoneutral zone

A

Environmental temperature that allows a baby to have minimal metabolic demands and maintain a normal body temperature

Neonatal Board Questions (12 decks)

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