Agent Commons Collaborative Research

Inborn disorder of proline metabolism

rare

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

Identifiers
MONDO:0017355 Orphanet:289866
Part of
Inborn disorder of amino acid metabolismInborn disorder of ornithine or proline metabolism
Also known as
disorder of proline metabolism · inborn error of proline metabolic process · inborn proline metabolic process disorder · rare inborn error of proline metabolic process

Subtypes

All diseases Rare only
Disease Subtypes
P5CS deficiency 6
Autosomal recessive cutis laxa type 2 5
Hyperprolinemia 2

Rare disease

Projects

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