metabolic dz

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

tx- enzyme replacement therapy

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

bone pain, splenomegaly and thrombocytopenia, growth failure

histiocytes with wrinkled tissue paper appearance

tx- enzyme replacement therapy

cherry red spot, organomegaly, narcolepsy and cataplexy, ataxia, supranuclear vertical gaze palsy

• presents 3-4 years of life
• no treatment

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)

• hepatosplenomegaly, jaundice, hypoglycemia, cataracts, seizures, vitreous hemorrhage
• increase E Coli Sepsis
• positive reducing substances in urine

tx- avoid galactose (lactose)

muscle aches and fatige with exercise,exercise intolerance, myoglobinuria

increased CK

tx- give glucose before exercise, avoid strenuous exercise

Doll facies, hepatomegaly, hypoglycemia, seizures, FTT

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

tx- restrict fructose and galactose, prevent hypoglycemia

vomiting, eczematoid rash, irritability, mousy odor, intellectual disability

tx- restrict phenylalanine

hepatomegaly, FTT, RTA, yellow skin and eyes, cabbage odor, nosebleeds

tx- restrict tyrosine and phenylalanine

brick red urine after sitting, spinal arthritis as adult, pigment deposits on ears and sclera as adults

tx- high dose vitamin C

skin rash, alopecia, encephalopathy

tx - biotin supplements

ketosis, seizures, rigidity, sweet urine smell

increase isoleucine, leucine, and valine in PAA

tx- restrict branched AA

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

ketoacidosis with hyperammonemia, encephalopathy, vomiting, marrow supproesson

restrict protein, give carnitine

frontal/cortical atrophy at birth, dystonia, subdural hematoma and retinal hemorrhages (can mimic abuse)

tx- carnitine

odor of sweaty feet, encephalopathy and symptoms of increased ammonia

intractable seizures, hypotonia, intellectual disability, hiccups in utero

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