Metabolic Disorders Flashcards
what happens when the transporter associated with carnitine uptake decificency isnt working?
carnitine gets wasted in the urine, low plasma levels
what makes up Friedrich ataxia?
hypoactive or absent DTRs, ataxia, corticospinal tract dysfunction, impaired vibratory function, HOCM, DM
what other metabolic disorder can be seen with methylmalonic acidemia?
homocystinuria (if has the enzyme deficit that blocks synthesis of methyl-B12)
how does CPT 2 present
exercise induced muscle pain and rhabdomyolysis
how does propronic acidemia present?
severe ketoacidosis +/- elevated ammonia, encephalopathy, vomiting, bone marrow suppresion, cardiomyopathy
organic acidemias can have what in common?
pancreatitis and bone marrow suppression
what physical findings occur in type 2 GSD?
infantile - cardiomegaly, hypotonia, death before age 1. juvenile - slowly progressive muscle involvement, no heart issues
what are children with galactosemia at risk for?
e. coli sepsis
what will be elevated in ornithine transcarbamoylase deficiency (OTC)
orotic acid levels
which type of MPS has predominately neurologic manifestations?
type 3, sanfilippo syndrome, inability to catabolize heparin sulfate
how is type 2 GSD (Pompe disease) different from other GSDs?
not an energy problem - it is a problem with accumulation of glycogen in lysosomes
what syndrome consists of ptosis, opthalmoplegia, and ragged-red fiber myopathy?
kearns-sayre syndrome (mitochondrial disorder)
how to diagnose acute intermittent prophyria?
measure hydroxymethylbiline synthetase in RBCs and look for abnormal porphobilinogen in the stool
if thinking that an amino acid disorder is present, what should you test?
urine organic acids and plasma amnio acids
how can you treat acute intermittent prophyria?
IV heme, IV glucose, narcotics,
what lab findings should make you think of type 1 GSD?
hyperlipidemia, elevated uric acid, hypoglycemia, elevated lactate
what are the two common hepatic porphyrias and how do they generally present?
acute intermittent porphyria, porphyria cutanea tarda —- neuropathy, mental disturbances, and abdominal pain
what is the enzyme defect in galactosemia?
deficiency of galactose 1-phosphate uridyltrasnferase — galactose will build up in liver, brain and kidney
what may come up in the history of a baby with nonketotic hyperglyceminia
in utero hiccups (and intractable seizures as a neonate)
what can cause clumsiness, intention tremor, dysarthria, proximal muscle weakness, and fasiculations?
juvenile tay-sachs
how does galactosemia present?
jaundice, HSM, hypoglycemia, irritability, cataracts, MR, vitreous hemorrhages, ascites, vomiting, seizures
what syndrome looks like hurlers but has hyperplastic gums?
mucolipidosis type II (I-cell deficiency)
when will type 1 GSD typically present?
age 3-4 months when babies start to space out feeds more and sleep through the night (more periods of fasting)
what will you see on muscle biopsy in type 2 GSD?
vacuoles filled with glycogen




