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Inborn errors of metabolism

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Written on 29/06/2021
, Last updated 14/10/2021

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. Inborn errors of metabolism, Don't Forget the Bubbles, 2021. Available at: https://doi.org/10.31440/DFTB.29302

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Disorder	Examples	Basic pathophysiology	Blood gas	Ammonia	Glucose	Ketones	Lactate
Urea cycle disorders	OTC deficiency	Defect in breakdown of nitrogen → ammonia	Respiratory alkalosis/normal	↑↑↑	-	-	-
Amino acid disorders	PKU, MSUD, homocystinuria	Defect in breakdown of amino acids	Metabolic acidosis (↑ anion gap)	↑/-	↓	↑ (MSUD ↑↑↑ urinary ketones)	-
Organic acid disorders	Propionic, MMA	Accumulation of organic acids	Metabolic acidosis (↑ anion gap)	↑	↓	↑	↑
Lysosomal storage disorders	MPS, Pompe, Gaucher, Niemann-Pick	Accumulation of proteins/lipids	-	-	-	-	-
Glycogen storage disorders	GSD types I-IX	Defect in glycogen synthesis	Metabolic acidosis	-	↓	↑	↑
Fatty acid oxidation disorders	MCADD, LCADD, VLCADD	Unable to break down fatty acids → ketones	Metabolic acidosis (↑ acidosis)	-	↓	↓	-/↑
Mitochondrial disorders	MELAS	Insufficient acetyl coA for Krebs cycle → ↓ ATP	Metabolic acidosis	-	-/↑	-	↑↑
Peroxisomal disorders	XL, ADL, Refsum, Zellweger	↓ metabolism of VLCFA, ↓ bile synthesis	-	-	-	-	-

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