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Flashcards in Metabolic Deck (34)
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1

most common metabolic condition

mitochondrial disease (1/5000 births)

2

metabolic finding in early hyperammonemia

respiratory alkalosis (eventually leading to respiratory acidosis as they become more lethargic)

3

metabolic conditions causing liver failure in the newborn

- tyrosenemia type 1
- galactosemia
- neiman-pick type C

4

RED FLAGS for inborn errors mimicking CP

- normal MRI, abnormalities isolated to globus pallidus
- absence of hx of perinatal injury, regression
- consanguinity, fam hx
- isolated muscle hypotonia, rigidity (vs. spasticity)

5

what should you RULE OUT in a mom with HELLP?

fatty acid oxidation disorder in baby

6

what metabolic conditions present with a funny odor?

organic acidopathies

7

mitochondrial disease - inheritance

most common type of inheritance = autosomal recessive.

Can also have maternal inheritance of mitochondrial disease, passed from mom to all children
- different levels of heteroplasmy affect the phenotype (not all clinically affected)

8

elevated ketones in unwell newborn

think of type 1 diabetes or inborn error of metabolism

9

urine tests for suspected metabolic condition

organic acids, amino acids, urinanalysis

10

blood tests for suspected metabolic condition

glucose, lytes, ammonia, lactate, urate, amino acids, acylcarnitine profile, homocysteine, carnitine (total/free), copper/ceruloplasmin

11

what three metabolites can you detect on an MRI/MRS?

creatine, lactate, NAA

12

initial management of metabolic crisis - how do you decrease toxic substances/metabolites

- decrease catabolism (provide glucose)
- eliminate exogenous substrate (NPO, no protein)
- reduce endogenous substrate (scavenger medications, dialysis)

13

PKU

phenylalanine hydroxylase deficiency (elevated Phe and low/normal tyrosine)
- do NOT get sick acutely, results in chronic dev delay

14

MCAD

most common beta-oxidation defect, can't produce ketones (hypoketotic hypoglycemia)

15

features of mucopolysaccharidoses (MPS)

- developmental regression, coarse facies, many are treatable

16

features of Gaucher disease

splenomegaly, bone disease
treatable - enzyme replacement

17

name the condition:
presents with encephalopathy AND
anion gap acidosis, hyperammonemia, hypoglycemia

think of organic acidemias!

18

name the condition:
presents with encephalopathy
AND
hyperammonemia
(normal glucose, no metabolic acidosis)

urea cycle disorder

19

what are MCAD, VLCAD?

beta-oxidation defects, present with non-ketotic hypoglycemia

20

what is a complication in a patient with a known beta-oxidation defect?

rhabdomyolysis!

21

what top three tests would you send in a patient with developmental delay

1. microarray
2. fragile x
3. if female - test for retts

22

how do you test for a mucopolysaccharidosis?

urine mucopolysaccharide screen

23

how do you treat mucopolysaccharidosis?

enzyme replacement therapy, bone marrow transplant

24

How is newborn screening done?

Tandem Mass Spectrometry (TMS)

25

two most common metabolic conditions screened for on NBS?

PKU
MCAD

26

what should you think of if you see a respiratory alkalosis?

hyperammonemia

27

what should you think of if you see a child with a stroke, which doesn't fit with the usual expected vascular distribution?

mitochondrial oxidative phosphorylation disorders

28

What labs would you send to work up developmental delay?

1. microarray
2. fragile x
3. if female, MECP2 (Retts)
4. Metabolic studies

29

how do you test for galactossemia?

urine reducing substances

GALT red blood cell screening test

30

what do you give in pyridoxine dependant seizures?

Vitamin B6