P5CS deficiency

Findings

No curated finding names P5CS deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn disorder of ornithine metabolism
• inborn disorder of proline metabolism

Narrower terms (4)

• ALDH18A1-related de Barsy syndrome
• autosomal dominant spastic paraplegia type 9
• autosomal recessive complex spastic paraplegia type 9B
• cutis laxa, autosomal dominant 3

Resolves to: P5CS deficiency

Also called

delta1-pyrroline-5-carboxylate synthetase deficiency