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DrGoblyn
on FreezingBlue Flashcards.
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Fabry Disease
- X-Linked
- pain in hands/feet, hypohydrosis, angiokeratomas as teen, renal dz, CAD, and stroke in early adulthood.
tx- enzyme replacement therapy
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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
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Gaucher
bone pain, splenomegaly and thrombocytopenia, growth failure
histiocytes with wrinkled tissue paper appearance
tx- enzyme replacement therapy
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Niemann Pick
cherry red spot, organomegaly, narcolepsy and cataplexy, ataxia, supranuclear vertical gaze palsy
- presents 3-4 years of life
- no treatment
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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)
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Galactosemia
- hepatosplenomegaly, jaundice, hypoglycemia, cataracts, seizures, vitreous hemorrhage
- increase E Coli Sepsis
- positive reducing substances in urine
tx- avoid galactose (lactose)
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McArdle Disease
muscle aches and fatige with exercise,exercise intolerance, myoglobinuria
increased CK
tx- give glucose before exercise, avoid strenuous exercise
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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
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PKU
vomiting, eczematoid rash, irritability, mousy odor, intellectual disability
tx- restrict phenylalanine
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Tyrosinemia
hepatomegaly, FTT, RTA, yellow skin and eyes, cabbage odor, nosebleeds
tx- restrict tyrosine and phenylalanine
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Alkaptonuria
brick red urine after sitting, spinal arthritis as adult, pigment deposits on ears and sclera as adults
tx- high dose vitamin C
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Multiple Carboxylase Deficiency
skin rash, alopecia, encephalopathy
tx - biotin supplements
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Maple Syrup Urine Disease
ketosis, seizures, rigidity, sweet urine smell
increase isoleucine, leucine, and valine in PAA
tx- restrict branched AA
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Ornithine Transcarbamoylase Deficiency
X-Linked
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
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Proprionic Acidemia
ketoacidosis with hyperammonemia, encephalopathy, vomiting, marrow supproesson
restrict protein, give carnitine
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Glutaric Aciduria
frontal/cortical atrophy at birth, dystonia, subdural hematoma and retinal hemorrhages (can mimic abuse)
tx- carnitine
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isovaleric acidemia
odor of sweaty feet, encephalopathy and symptoms of increased ammonia
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Nonketotic hyperglycinemia
intractable seizures, hypotonia, intellectual disability, hiccups in utero
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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
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