Disorder of sphingolipid biosynthesis

MONDO:0021130

An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.

Also known as: inborn error of sphingolipid biosynthetic process, inborn sphingolipid biosynthetic process disorder, rare inborn error of sphingolipid biosynthetic process

1 clinical trial for this condition and its sub-types, 1 tagged with Disorder of sphingolipid biosynthesis itself.

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Where it sits in the disease tree

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Part of

↑ Inherited lipid metabolism disorder (644)

Including sub-types (1) Tagged with Disorder of sphingolipid biosynthesis (1)

Completed 1

Scientists track Venglustat's journey through healthy men

Knowledge-focused Completed

This early-stage study gave a single dose of the experimental drug venglustat to 6 healthy men to see how it is processed and eliminated from the body. Researchers measured radioactivity in urine, feces, and blood to map the drug's breakdown and excretion. The goal was to underst…

Phase 1 • Sponsor: Genzyme, a Sanofi Company • Aim: Knowledge-focused

Last updated Jun 26, 2026 18:21 UTC

Disorder of sphingolipid biosynthesis

Where it sits in the disease tree

Scientists track Venglustat's journey through healthy men