EXAM #2: INHERITED METABOLIC DISORDERS Flashcards Preview

Endocrine > EXAM #2: INHERITED METABOLIC DISORDERS > Flashcards

Flashcards in EXAM #2: INHERITED METABOLIC DISORDERS Deck (27):
1

When should a metabolic disorder be considered in a child?

1) All neonates with unexplained, overwhelming, or progressive disease after normal pregnancy
2) All kids with acute deterioration after routine illness
3) All kids with acidosis or hypoglycemia

2

What is the most common inheritance pattern of the inborn errors of metabolism?

Autosomal recessive

3

In obtaining a history, what is paramount when an inborn error of metabolism is suspected?

Diet history

4

What should you do if you suspect acute toxicity from an inborn error of metabolism?

Stop oral feeding

5

What is a red flag physical exam finding in a newborn?

Diaphoresis (newborns should NOT sweat)

6

What can grunting respirations in a child be a sign of?

Metabolic derangement/ acidosis

7

What is the differential for a seizure in a newborn/child?

1) Infection
2) CNS abnormality
3) Metabolic disorder

8

How are inborn metabolic errors worked up?

1) Electrolytes, glucose, ammonia
2) Blood, urine, CSF cultures
3) Head CT/MRI

9

What is the general rule of thumb regarding abx in a newborn?

Error on the side of giving abx vs. not

10

What is phenylalanine converted to?

Tyrosine

11

What enzyme converts phenylalanine to tyrosine?

phenylalanine hydroxylase

12

What is the result of the enzyme defect seen in classic PKU?

Autosomal recessive defect in liver phenylalanine hydroxylase that leads to:
- Increased phenylalanine
- Phenylketones

13

How is PKU treated?

1) Restrict Phe to 250-300mg per day
2) Lofenalac

14

What is malignant hyperphenylalaninemia?

Defect in coenzyme for phenylalanine hydroxylase

*Note that dietary Phe restriction will not improve sx.

15

What are the clinical manifestations of PKU?

1) Choking spells
2) Feeding difficulty
3) Vomiting
4) Abnormal neurological development i.e. autism like features

16

What do you need to remember about the dietary restrictions of PKU?

Maintain throughout life--esp. in pregnancy

17

What causes galactosemia?

Defect in galactose 1-phospate uridylyltransferase

18

What accumulates in galactosemia?

Galactose 1-phosphate

19

What are the clinical manifestations of galactosemia?

- Vomiting
- Diarrhea
- Hepatosplenomegaly (HSM)
- Jaundice
- Anemia

20

What are kids with galactosemia susceptible to?

Gram negative sepsis esp. E.coli

21

How is Galactosemia diagnosed?

- Red cell enzyme tests
- Urine with reducing substrate

22

How is Galactosemia treated?

1) No breast-feeding
2) No lactose/ cow's milk
3) Switch to soy formula

23

What are the three major things to monitor for in kids with Galactosemia?

1) Developmental delay
2) Cataracts
3) Premature ovarian failure

24

What is MCAD?

Medium-chain acyl-CoA dehydrogenase deficiency

*Disorder of fatty acid oxidation

25

What should be avoided in MCAD?

Fasting

26

What is a typical presentation of MCAD?

Kid will fast all night, vomit in am, and then be comatose from hypoglycemia

27

How do you tell the difference between an organic acidemia and urea cycle disorder on blood gas?

pCO2 and HCO3 will be LOW in BOTH

*Organic= low pH; Urea cycle= high pH