Hereditary renal disease
Glutaric acidemia type II
Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 29 August 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.
● Metabolic disorder due to deficiency of flavoprotein or its oxyreductase (Arch Pathol Lab Med 1988;112:1133)
● Acidosis, non-ketotic hypoglycemia, hyperammonemia, dysmorphic facial features, urinary organic acidemia and “sweat sock” odor
● May have lipid accumulation in liver, heart and renal tubular epithelium
● May cause sudden death or an acute life-threatening event during first year of life (Mol Genet Metab 2008;93:36)
● 23 year old woman with adult onset presentation with myopathy (J Clin Neuromuscul Dis 2003;4:124)
● Subcortical renal glomerular cysts, renal medullary dysplasia
Electron microscopy description
● Cytoplasmic, homogenous and moderately electron dense bodies with a limiting membrane (Arch Pathol Lab Med 1986;110:399)
● Various mutations (Eur J Clin Invest 2002;32:707, Mol Genet Metab 2002;77:86)
End of Kidney non-tumor > Hereditary renal disease > Glutaric acidemia type II
Ref Updated: 6/8/12
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