Abnormal excretion of urinary phospholipids and sulfatide in patients with mitochondrial encephalomyopathies.
We found that patients with mitochondrial encephalomyopathies excreted urinary phosphatidylethanolamine, cardiolipin, and phosphatidylserine most likely derived from mitochondria and sulfatide which is specific to myelin or the kidney. It is of interest that four patients with myoclonus epilepsy with ragged-red fibers and one patient with chronic progressive external ophthalmoplegia all showed qualitatively similar abnormal excretion of such urinary lipids. It is conceivable that the urinary acidic phospholipids reflect abnormalities in the mitochondrial phospholipids, which are very important for mitochondrial enzymatic activities.
Uyama
E
E
Department of Lipid Biochemistry, Shinshu University School of Medicine, Matsumoto, Japan.
Kutsukake
Y
Y
Hara
A
A
Uemura
K
K
Uchino
M
M
Mita
S
S
Ando
M
M
Taketomi
T
T
D000293:Adolescent; D000328:Adult; D002852:Chromatography, Ion Exchange; D002855:Chromatography, Thin Layer; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics / Q000652:urine; D008246:Lysophospholipids / Q000652:urine; D017241:MELAS Syndrome / Q000235:genetics / Q000652:urine; D017243:MERRF Syndrome / Q000235:genetics / Q000652:urine; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000652:urine*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics / Q000652:urine; D010743:Phospholipids / Q000652:urine*; D012016:Reference Values; D013433:Sulfoglycosphingolipids / Q000652:urine*
D008246:Lysophospholipids; D010743:Phospholipids; D013433:Sulfoglycosphingolipids