Kidney nontumor
Metabolic abnormalities

Topic Completed: 6 November 2017

Minor changes: 16 February 2020

Copyright: 2002-2020,, Inc.

PubMed Search: Kidney metabolic abnormalities

Nikhil Sangle, M.D.
Page views in 2020 to date: 33
Cite this page: Sangle N. Metabolic abnormalities. website. Accessed June 7th, 2020.
Definition / general
Clinical features
    Glutaric acidemia type II
    • 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)

    Lecithin-cholesterol acyl transferase deficiency
    • Lecithin cholesterol acyltransferase (LCAT) is crucial to maturation of high density lipoprotein (HDL)
    • Homozygosity causes deficiency of HDL cholesterol (HDL-c); heterozygotes have half normal HDL-c levels
    • Usually but not always due to mutations in coding sequence (Hum Mutat 2011;32:1290, Clin Nephrol 2011;76:323)
    • Associated with nephrotic syndrome

    Lipoprotein glomerulopathy
Case reports
Lecithin cholesterol acyltransferase deficiency
Lipoprotein glomerulopathy
Microscopic (histologic) description
  • Glutaric acidemia type II: subcortical renal glomerular cysts, renal medullary dysplasia
  • Lecithin-cholesterol acyl transferase deficiency: bubbly thickening of glomerular basement membrane in membranous pattern; mesangial sclerosis and foamy macrophages in capillaries and mesangium
  • Lipoprotein glomerulopathy: lipoprotein thrombi containing apolipoprotein apo E, usually E2
Microscopic (histologic) images

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Lipoprotein glomerulopathy
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Lipoprotein thrombi

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Dilated capillary lumina

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Various lipid peroxidation-protein adducts

Electron microscopy description
  • Glutaric acidemia type II: cytoplasmic, homogenous and moderately electron dense bodies with a limiting membrane (Arch Pathol Lab Med 1986;110:399)
  • Lecithin-cholesterol acyl transferase deficiency: small, solid, thread like or lamellar dense structures in empty appearing lacunae
  • Lipoprotein glomerulopathy: characteristic lamellar accumulations of variably sized lipid droplets
Electron microscopy images

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LCAT deficiency: inclusion of lipid droplets

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Glomerular lesions of LCAT deficiency

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Lipoprotein glomerulopathy:
Lipid granules
and concentrically
laminated vacuoles
Molecular / cytogenetics description
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