2. Biology Dictionary
  3. Sorbitol dehydrogenase deficiency with peripheral neuropathy

Sorbitol dehydrogenase deficiency with peripheral neuropathy

Definition:

Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic mutations in SORD that encodes an enzyme that converts sorbitol into fructose.

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #
Molarity Calculator
Dilution Calculator
Signaling Pathways