Muscle Hypotonia in Lowe’s Syndrome

Abstract

As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growth and renal function.

Keywords

• oculocerebrorenal syndrome
• muscle enzymes
• carnitine metabolism