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Inborn Errors

Inborn Errors of Metabolism

QuestionAnswer
Ones to think about if child presents in first 1-3 weeks ? -*Amino acidopathies -MSUD -PKU -tyrosinemia -*Urea cycle disorders -*Galactosemia -*Mitochondrial disorders -*Peroxisomal -*Fatty acid oxidation
MSUD MoA ? * can't break down branched chain amino acids (leucine, isoleucine, valine).....see well at birth and get after 3 days, hypoglycemia and met acidosis.... Urine smells like maple syrup
MSUD tmt ? * no BCAA and take thiamine and B1
PKU MoA ? *PH deficiency - phenylalanine hydroxylase def...leads to high levels of phenyalanine, and no tyrosine is made....see fair skin/hair, musty odor, epilepsy, other hypopigmentations
PKU tmt ? * give tyrosine since you cant make it
Maternal PKU and being pregnant ? *phenylalanine is teratogenic, so can cause retardation, microceph, or heart defects
*Organic Acidemias* .
Neonatal presentation ? *Well at birth and for the first few days of life ----- *often lethal, and survivors often have significant physical and/or mental disabilities
If metabolic acidosis with an anion gap, and elevated lactate ? *Methylmalonic acidemia .....*Propionic acidemia
Methylmalonic acidemia MoA and Tmt? *autosomal recessive...defects in methylmalonyl-CoA mutase....* tmt = diet and B12..... *see massive urinary excretion of methylmalonic acid
Propionic acidemia MoA ? *autosomal recessive....*defects in propionyl-CoA carboxylase .... *see hyperammonemia, high plasma glycine; increased urinary excretion of 3-hydroxypropionic acid, methylcitrate, and tiglylglycine
*Urea Cycle Disorders* .
Main thing we see that is different in urea cycle disorders ? * no acidosis, but see respiratory alkalosis...with high serum amino acids
Most common Urea cycle defect and also only X-linked ? * OTC - see high levels of ornithine
Consequences of Urea Cycle Disorders ? * the high levels of ammonia can lead to neurological impairment
*Carbohydrate Disorders* .
Classic Galactosemia ? *Galactose-1-P uridyl transferase (GALT) deficiency --- cant break down Gal-1-P, and it is toxic
Non-Classic Galactosemia ? *Galactokinase deficiency - cant turn galactose in to Gal-1-P
Galactosemia Cx ? *newborn crash with vomiting diarrhea, jaundice, progressive liver and renal disease, increased risk of E.coli sepsis, progressive bilateral cataracts
Glycogen Storage Disorders* *
von Gierke disease ? *Glucose-6-phosphatase ---convulsions b cant metabolize glucose for energy, get hyperlipidemia/urcemia - skin xanthomas, and bleeding issues
McArdle syndrome ? *painful cramps with exercise
*Fatty Acid Oxidation* .
MCAD deficiency basics ? * major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands.....* creates a fatal hypoglycemic state
*Peroxisomal Disorders* .
Zellweger Syndrome ? *most severe peroxisomal disorder.... *get over-accumulation of very long-chain fatty acids .... *see facial features such as a high forehead, underdeveloped eyebrow ridges, & wide-set eyes; & neurological abnormalities such as mental retarded
*Lysosomal storage disorders* .
The single most common LSD is ? *Gaucher disease - Progression leads to a vegetative state
*Mucopolysaccharidoses* .
Hurler syndrome (MPS I) ? *Nz = alpha- idurondase....* corneal clouding, coarse facies, short stature, dysostosis multiplex, organomegaly, heart disease, joint stiffness, mental retardation; diagnosed @ 6-24 months, childhood death
Tay-Sachs Disease ? *GM2 gangliosidosis - Lipid storage disease often results in distended neurons.....*A cherry-red spot is a finding in the macula
Tay-Sachs Disease enzyme def ? * Hexosamindase A
Created by: thamrick800
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