Metabolic Flashcards
most common metabolic condition
mitochondrial disease (1/5000 births)
metabolic finding in early hyperammonemia
respiratory alkalosis (eventually leading to respiratory acidosis as they become more lethargic)
metabolic conditions causing liver failure in the newborn
- tyrosenemia type 1
- galactosemia
- neiman-pick type C
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)
what should you RULE OUT in a mom with HELLP?
fatty acid oxidation disorder in baby
what metabolic conditions present with a funny odor?
organic acidopathies
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)
elevated ketones in unwell newborn
think of type 1 diabetes or inborn error of metabolism
urine tests for suspected metabolic condition
organic acids, amino acids, urinanalysis
blood tests for suspected metabolic condition
glucose, lytes, ammonia, lactate, urate, amino acids, acylcarnitine profile, homocysteine, carnitine (total/free), copper/ceruloplasmin
what three metabolites can you detect on an MRI/MRS?
creatine, lactate, NAA
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)
PKU
phenylalanine hydroxylase deficiency (elevated Phe and low/normal tyrosine)
- do NOT get sick acutely, results in chronic dev delay
MCAD
most common beta-oxidation defect, can’t produce ketones (hypoketotic hypoglycemia)
features of mucopolysaccharidoses (MPS)
- developmental regression, coarse facies, many are treatable
features of Gaucher disease
splenomegaly, bone disease
treatable - enzyme replacement
name the condition:
presents with encephalopathy AND
anion gap acidosis, hyperammonemia, hypoglycemia
think of organic acidemias!
name the condition: presents with encephalopathy AND hyperammonemia (normal glucose, no metabolic acidosis)
urea cycle disorder
what are MCAD, VLCAD?
beta-oxidation defects, present with non-ketotic hypoglycemia
what is a complication in a patient with a known beta-oxidation defect?
rhabdomyolysis!
what top three tests would you send in a patient with developmental delay
- microarray
- fragile x
- if female - test for retts
how do you test for a mucopolysaccharidosis?
urine mucopolysaccharide screen
how do you treat mucopolysaccharidosis?
enzyme replacement therapy, bone marrow transplant
How is newborn screening done?
Tandem Mass Spectrometry (TMS)
