Kidney nontumor
Hereditary renal disease
Glutaric acidemia type II

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 29 November 2017, last major update November 2017

Copyright: (c) 2003-2017,, Inc.

PubMed Search: Glutaric acidemia type II [title]
Cite this page: Sangle, N. Glutaric acidemia type II. website. Accessed October 23rd, 2018.
Definition / general
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
Microscopic (histologic) description
  • Subcortical renal glomerular cysts, renal medullary dysplasia
Electron microscopy description
Molecular / cytogenetics description