metabolic dz

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  1. Fabry Disease
    • X-Linked
    • pain in hands/feet, hypohydrosis, angiokeratomas as teen, renal dz, CAD, and stroke in early adulthood.

    tx- enzyme replacement therapy
  2. Tay Sachs
    infantile-cherry red spot, axial hypotonia, startle that doesn't diminish with time, hyporeflexia, siezures, blindness, autonomic dysfunction, death

    Juvenile- indolent form, clumsy child with intention tremor, proximal muscle weakness, psychiatric sx. Ashkenazi jewish population
  3. Gaucher
    bone pain, splenomegaly and thrombocytopenia, growth failure

    histiocytes with wrinkled tissue paper appearance

    tx- enzyme replacement therapy
  4. Niemann Pick
    cherry red spot, organomegaly, narcolepsy and cataplexy, ataxia, supranuclear vertical gaze palsy

    • presents 3-4 years of life
    • no treatment
  5. Hereditary Fructose Intolerance
    hepatomegaly, jaundice, lethargy, seizures, irritability, liver and kidney failure

    Presents when table sugar started (juice, cereal), positive reducing substances (fructose)

    tx- avoid fructose (sucrose, sorbitol)
  6. Galactosemia
    • hepatosplenomegaly, jaundice, hypoglycemia, cataracts, seizures, vitreous hemorrhage
    • increase E Coli Sepsis
    • positive reducing substances in urine

    tx- avoid galactose (lactose)
  7. McArdle Disease
    muscle aches and fatige with exercise,exercise intolerance, myoglobinuria

    increased CK

    tx- give glucose before exercise, avoid strenuous exercise
  8. Von Gierke Disease
    Doll facies, hepatomegaly, hypoglycemia, seizures, FTT

    hypoglycemia, hyperuricemia, lactic acidosis, hyperlipidemia -> risk of gout, pancreatitis, hepatic adenoma

    tx- restrict fructose and galactose, prevent hypoglycemia
  9. PKU
    vomiting, eczematoid rash, irritability, mousy odor, intellectual disability

    tx- restrict phenylalanine
  10. Tyrosinemia
    hepatomegaly, FTT, RTA, yellow skin and eyes, cabbage odor, nosebleeds

    tx- restrict tyrosine and phenylalanine
  11. Alkaptonuria
    brick red urine after sitting, spinal arthritis as adult, pigment deposits on ears and sclera as adults

    tx- high dose vitamin C
  12. Multiple Carboxylase Deficiency
    skin rash, alopecia, encephalopathy

    tx - biotin supplements
  13. Maple Syrup Urine Disease
    ketosis, seizures, rigidity, sweet urine smell

    increase isoleucine, leucine, and valine in PAA

    tx- restrict branched AA
  14. Ornithine Transcarbamoylase Deficiency

    lethargy, hypotonia, respiratory alkalosis, liver damage, skin lesions, brittle hair

    increase ammonia, CSF glutamine, low citrulline

    tx- treat ammonia, d/c protein intake and increase carbs and lipids short term
  15. Proprionic Acidemia
    ketoacidosis with hyperammonemia, encephalopathy, vomiting, marrow supproesson

    restrict protein, give carnitine
  16. Glutaric Aciduria
    frontal/cortical atrophy at birth, dystonia, subdural hematoma and retinal hemorrhages (can mimic abuse)

    tx- carnitine
  17. isovaleric acidemia
    odor of sweaty feet, encephalopathy and symptoms of increased ammonia
  18. Nonketotic hyperglycinemia
    intractable seizures, hypotonia, intellectual disability, hiccups in utero
  19. MCAD deficiency
    most common FAO disorder

    lethargy and hypoglycemia, seizures, coma. Associated with Reye sx and SIDS

    • low free carnitine, increased c8 and c10 esters
    • tx- IV glucose and bicarb, cornstarch at bedtime
Card Set
metabolic dz
high yield metabolic disease for pediatric boards
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