Inborn Errors of Metabolism Table Flashcards
FA oxidation disorders - metabolism, mech, result, disorders, presentation
Fat Defect in B oxidation of FAs Inability to generate ketone bodies during fasting MCAD and LCAD def Lethargy and vomiting
FA oxidation disorders - hyperammonemina, hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Possible Key feature Absent of inappropriately low Absent Absnet Plasma Acylcarnitines Dextrose and IVs Yes
Organic acid disorders metabolism, mech, result, disorders, presentation
Protein AA breakdown Accumulation of organic acid byproducts Propionic acidemia and methylmalonic acidemia Lethargy and vomiting
Organic acid disorders hyperammonemina, hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Possible Possible Present Key feature with anion gap Possible Urine organic acids Protein restriction, dextrose, IVs Yes
AA disorders metabolism, mech, result, disorders, presentation
Protein Defect in AA brekadown Accumulation of intact AAs PKU, MSUD, Tyrosinemia Variable
AA disorders hyperammonemina, hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Absent Absent Absent Absent Absent Plasma amino acids Protein restirction, dextrose, IVs Yes
Urea cycle disorders metabolism, mech, result, disorders, presentation
Protein
Defect in urea formation from ammonia produced from AA breakdwon
Accumulation of ammonia
OTC deficiency, citrullinemia, arginosuccinic aciduria
Lethary and vomiting
Urea cycle disorders hyperammonemina, hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Key feautre Absent Absent Absent Absent Plasma amino acids and urine orotic acid Protein restirction, dextrose, IVs Yes except OTC def
Glycogen storage dz mech, disorders, presentation
Disorder of glycogenolysis
Type 1-6
Heptatomegaly
Glycogen storage dz hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Key feature Key feature - high levels Present Present DNA testing Dextrose No
Galactosemia mech, disorders, presentation
Defect in galactose metabolis
GALT deficiency
Poor weight gain, poor feeding, vomiting, jaundice and hepatomegaly
Galactosemia hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
POssible Absent or low Uncommon Uncommon Erythrocyte GALT analysis Dextrose and avoid galactose Yes
Hereditary fructose intolerance mech, disorders, presentation
Defect in fructose metabolism
Aldolase def
Poor feeding with vomting with introduction of sucrose or fructose
Hereditary fructose intolerance hypoglyceima, ketones, acidosis, lactic acidosis, diagnosis, actue tx and newborn screening
Possible Absent or low Possible Possible DNA testing Dextrose and avoid fructose No
