transaldolase 1 deficiency
transaldolase 1 deficiency
An autosomal recessive condition (OMIM:606003) characterised by telangiectases of the skin, hepatosplenomegaly and enlarged clitoris.Molecular pathology
Caused by defects of TALDO1, which encodes transaldolase 1, a key enzyme of the nonoxidative pentose phosphate pathway.