Ontology highlight
ABSTRACT:
SUBMITTER: Huck JH
PROVIDER: S-EPMC1181951 | biostudies-other | 2004 Apr
REPOSITORIES: biostudies-other
Huck Jojanneke H J JH Huck Jojanneke H J JH Verhoeven Nanda M NM Struys Eduard A EA Salomons Gajja S GS Jakobs Cornelis C van der Knaap Marjo S MS
American journal of human genetics 20040225 4
The present article describes the first patient with a deficiency of ribose-5-phosphate isomerase (RPI) (Enzyme Commission number 5.3.1.6) who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed highly elevated levels of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPI, one of the pentose-phosphate-pathway (PPP) enzymes, was demonstrated in ...[more]