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Kidney non-tumor

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)

Clinical features

● 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)

Case reports

● 23 year old woman with adult onset presentation with myopathy (J Clin Neuromuscul Dis 2003;4:124)

Micro description

● 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)

Molecular description

● 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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