Inborn disorder of proline metabolism

MONDO:0017355

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

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

0 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of proline metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of amino acid metabolism (159) ↑ Disorder of organic acid metabolism (154) ↑ Inborn disorder of ornithine or proline metabolism (4)

Sub-types of Inborn disorder of proline metabolism

P5CS deficiency 0 trials
4 sub-types
- ALDH18A1-related de Barsy syndrome 0 trials
- Autosomal dominant spastic paraplegia type 9 0 trials Sub-types →
- Autosomal recessive complex spastic paraplegia type 9B 0 trials
- Cutis laxa, autosomal dominant 3 0 trials
Autosomal recessive cutis laxa type 2 0 trials
4 sub-types
- Autosomal recessive cutis laxa type 2A 0 trials Sub-types →
- Autosomal recessive cutis laxa type 2B 0 trials
- Autosomal recessive cutis laxa type 2C 0 trials
- Autosomal recessive cutis laxa type 2D 0 trials
Hyperprolinemia 0 trials
2 sub-types
- Hyperprolinemia type 1 0 trials
- Hyperprolinemia type 2 0 trials

Most studied deeper sub-types

Autosomal dominant complex spastic paraplegia type 9B (0) Hereditary spastic paraplegia 9A (0) Wrinkly skin syndrome (0)

Including sub-types (0) Tagged with Inborn disorder of proline metabolism (0)

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