transaldolase 1 deficiency

(redirected from TALDO1 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.