Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glycolipidosis

This group of disorders encompasses disturbances in clycolipid synthesis, storage, and transport.

Historical Aspects

The term was coined 1964 in a paper by Minkowitz.[1]

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Disturbances of glucose metabolism
Food intolerance
Glycolipidosis
Inclusion body myopathy 2
GNE
Infantile sialic acid storage disorder
SLC17A5
Nonaka myopathy
GNE
Salla disease
SLC17A5
Sialuria
GNE
HADH deficiency
Hemochromatosis
Hereditary lipid disorders
Hypomagnesemia
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Urea cycle disorders

References:

1.

MINKOWITZ S et al. (1964) A NEW FORM OF VISCERAL HISTIOCYTIC GLYCOLIPIDOSIS WITH MENTAL RETARDATION.

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