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Endocrine > Ped Metabolic Illness > Flashcards

Ped Metabolic Illness Flashcards

1
Q

How common are pediatric metabolic disorders?

A

1/200

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2
Q

What is the prognosis for most of the pediatric metabolic disorders?

A

Lethal

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3
Q

What common condition mimics pediatric metabolic disorders?

A

Sepsis
Birth trauma
HF

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4
Q

What are the three conditions in which a metabolic disorder must be suspected?

A
  • Neonates with unexplained, progressive disease after normal pregnancy
  • All children with acute deterioration of general condition
  • Children with ssx of acidosis or hypoglycemia
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5
Q

What is the inheritance pattern of Type II hyperlipoproteinemia?

A

AD

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6
Q

What is the inheritance pattern of Polycystic kidney disease?

A

AD

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7
Q

What is the inheritance pattern of G6PD deficiency?

A

XLR

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8
Q

What is the inheritance pattern of Hunter syndrome? What enzyme is defective in this? What metabolites accumulate? SSX?

A

XLR
iduronate-2-sulfatase (I2S).[1][2] The accumulated substrates in Hunter syndrome are heparan sulfate and dermatan sulfate

GAG buildup in face and abdo, but no eye

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9
Q

What is the inheritance pattern of Duchenne’s muscular dystrophy? What is the pathophysiology of this?

A

XLR

Mutation in the dystrophin gene that is a part of the skeletal framework of muscle cells

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10
Q

What is the inheritance pattern of Hurler’s syndrome? What enzyme is defective in this? What metabolites accumulate? SSX?

A

XLR
alpha-L iduronidase

Heparan sulfate and dermatan sulfate

MR, eye issues

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11
Q

What is the most important part of the history to obtain if you suspect an inherited disorder of metabolism

A

Diet history

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12
Q

What are the ssx of inborn?

A

Hypoglycemia
Metabolic acidosis
Lactic acidosis
Hyperammonemia

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13
Q

Diaphoretic newborns should be suspicious for what?

A

IEM

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14
Q

What is the ULN of ammonia for infants? How does this compare to adults?

A

95 Much higher than adults (35)

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15
Q

What are the ssx of hyperammonemia?

A

Lethargy
Somnolence
Emesis
Szs

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16
Q

What, generally, is the usual cause of hyperammonemia in children?

A

Urea cycle issues

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17
Q

What is the drug of choice for treating seizures in infants? MOA?

A

Phenobarbital

increased flux of chloride ions into the neuron d/t increase in Cl channel opening duration

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18
Q

What is MCAD deficiency? Cause? Ssx?

A
  • AR, Medium-chain acyl-CoA dehydrogenase deficiency
  • hypoketotic hypoglycemia and liver dysfunction, often preceded by extended periods of fasting or an infection with vomiting.
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19
Q

What is the most common cause of sepsis in newborn females?

A

UTI

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20
Q

What is the cause of PKU? SSX?

A

Deficiency in phenylalanine hydroxylase, causing a musty baby odor, and MR if not treated

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21
Q

What is the amino acid that pts with PKU must avoid? What must they take a supplement for?

A

Avoid F

Increase Y

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22
Q

What is the inheritance pattern of PKU?

A

AR

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23
Q

How do you diagnose PKU?

A

Plasma Phe level more than 20 mg/dL

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24
Q

What is the treatment for PKU?

A

Restrict F intake

Lofenalac

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25
Q

What is Lofenalac?

A

Baby formula that lacks phenylalanine for PKU pts

26
Q

What is malignant hyperphenylalaninemia?

A

normal phenylalanine hydroxylase (PAH) activity but have a deficiency in dihydropteridine reductase (DHPR), an enzyme required for the regeneration of tetrahydrobiopterin (THB), a cofactor of PAH

27
Q

What are the early ssx of PKU?

A
  • Choking spells with trying to swallow
  • Vomiting
  • Abnormal neurological development
28
Q

What are the Phe levels for mild, moderate, and severe PKU?

A 
Mild = less than 600
Mod = 600-1200
Severe = 1200+
29
Q

What is the inheritance pattern of PKU?

A

AR

30
Q

What is the incidence of PKU?

A

1:15000

31
Q

What is the allowable amount of Phe for PKU pts?

A

250-350 mg

32
Q

What are the ssx of maternal PKU (untreated PKU in the mother)?

A

Microcephaly
Low birth weight
MR

33
Q

What level of Phe in a PKU mother is bad for the infant?

A

More than 360 microM

34
Q

What is the cause of galactosemia? Inheritance? Ssx?

A
  • AR
  • Galactokinase, or galactose-1-uridyl transferase
  • ssx: hepatomegaly, MR, cataracts,
35
Q

What causes the cataracts in pts with galactosemia?

A

High galactose levels are converted in eye by aldose reductase to galactitol, but this is not suitable for polyol dehydrogenase (the next enzyme in the pathway) so builds up.

36
Q

What is the incidence of galactosemia?

A

1:75000

37
Q

What is the usual presentation of children with galactosemia?

A

Physically normal at birth, but vomiting, diarrhea, HSN, jaundice and cataracts

38
Q

What type of bacteria are patients with galactosemia susceptible to?

A

Gram negatives

39
Q

What is the urinary finding of galactosemia?

A

Reducing substance (sugar)

40
Q

What is the test to confirm galactosemia?

A

Red cell enzyme test

41
Q

What is the treatment for galactosemia?

A

Avoid breast milk and other sources of galactose—soy formula

42
Q

What is the prognosis for galactosemia?

A

Mortality in neonatal period of 20%, but good if treated

43
Q

What are the three major things to monitor for with pts with galactosemia?

A
  • E. coli sepsis risk
  • Treat jaundice PRN
  • Monitor for developmental delay
44
Q

What is the presentation of MCAD deficiency?

A

Emesis after periods of fasting (sleeping)

45
Q

What are the pH, pCO2, and HCO3 levels with organic acidemias? Urea cycle disorders?

A

All low for organic acidemias

pH is high with urea cycle disorders, but HCO3 and pCO2 are low

46
Q

What is the cause of homocystinuria? What is the enzyme that causes this involved in? Ssx?

A

Deficiency in cystathionine beta synthase–involved in the pathway of converting methionine to cysteine

Dislocation of optic lens, MR,

47
Q

What is the treatment for homocystinuria?

A

B6 supplementation

48
Q

What is the cofactor needed for Phenylalanine hydroxylase?

A

DHP

49
Q

How does PKU cause MR?

A

Inhibits the transport of other amino acids across the BBB

50
Q

What molecule can all glucogenic amino acids be broken down into? Ketogenic?

A
  • Oxaloacetate = glucogenic

- Acetyl-coa

51
Q

What are the two purely ketogenic amino acids?

A

Leucine

Lysine

52
Q

What is familial hyperinsulinemic hypoglycemia type 6?

A

Insensitivity of E-dehydrogenase, leading to continued catabolism of AAs. The increase in ATP leads the pancreas to overproduce insulin, causing hypoglycemic hyperinsulinemia

53
Q

What is the only reaction in the body N5-THF back to THF? What enzyme catalyzes this reaction?

A

Conversion of homocysteine to methionine

Methionine synthase

54
Q

What is the cause of maple syrup urine disease?

A

Inability to break down branched chain amino acids (Isoleucine, Leucine, Valine)
(“I Love Vermont Maple syrup”)

55
Q

What is alkaptonuria, and what causes it? SSx?

A
  • Homogentisate oxidase defect

- Urine turns black on exposure to air, and ochronosis

56
Q

What is the molecule that can be donated from the urea cycle to the TCA cycle?

A

Fumarate

57
Q

What is the molecule that can be donated from the TCA cycle, to the urea cycle?

A

OXA –(AST)– D

(AST) is the enzyme

58
Q

What is the cause of citrullinemia? Ssx? Treatment?

A

Defect in argininosuccinate synthetase,

59
Q

What is the cause of argininosuccinic aciduria? Ssx? Treatment?

A

Defect in argininosuccinate lyase

60
Q

What is the cause of hyperargininemia? Ssx? Treatment?

A

Arginase deficiency

61
Q

What is the major difference between hyperargininemia and other urea cycle defects?

A

Build up of ammonia leads to hepatic encephalopathy

62
Q

What is Adrenoleukodystrophy? What is the classical presentation? Prognosis? Gene?

A

ABCD1 gene–XLR disorder of peroxisomal beta-FA degradation. Leads to neuropathy d/t FA accumulation.

Young male with acidosis, Hyperkalemia, hypotension, and neurological ssx.

Endocrine (32 decks)

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