Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

0142041 - FGU-C 20000079 RIV NL eng J - Journal Article
Zeman, J. - Krijt, J. - Stratilová, L. - Hansíková, H. - Wenchich, L. - Kmoch, S. - Chrastina, P. - Houštěk, Josef
Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.
Journal Inherited Metabolic Disordes. Roč. 23, - (2000), s. 371-374
R&D Projects: GA MŠMT VS96127; GA ČR GA302/99/0648; GA MZd IZ4179
Grant - others:GA UK(XC) 65/1999
Institutional research plan: CEZ:AV0Z5011922
Subject RIV: ED - Physiology

Fumarate hydratase deficiency is a rare metabolic disease whichpresent in early infancy with failure to thrive, hypotonia, micro-cephaly, infantile spasma and severe psychomotoric retardation.On the basis of observed increases of SAICAR and S-Ado in thecerebrospinal fluid a possible role of succinylpurines in patho-genesis of CNS impairment is proposed.
Permanent Link: http://hdl.handle.net/11104/0039750