IEMbase 0040: PRODH-related proline dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 40 |
| Nosology | 1.7.05.01 |
| Gene | PRODH |
| External IDs | OMIM:239500 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | none currently valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PRODH deficiency as proline dehydrogenase deficiency, also called hyperprolinemia type I. The biochemical pattern is increased plasma proline, with normal-to-increased urinary proline, urinary glycine, and urinary 4-hydroxyproline. The characteristic clinical row states "No clinical significance." Treatability is unknown and no treatment rows are present.
DisMech phenotype coverage
There is no current DisMech entry or subtype for isolated PRODH-related hyperprolinemia type I. PRODH appears locally in the context of 22q11.2 deletion syndrome as a contributor to a broader contiguous-gene/neuropsychiatric mechanism, but that is not the same entity as isolated hyperprolinemia type I.
This record is also distinct from ALDH4A1-related hyperprolinemia type 2, which has elevated P5C and more seizure-associated clinical uncertainty, and from ALDH18A1-related P5CS deficiency, which is a proline-biosynthesis disorder with low or low-normal amino acids.
Concordance and completeness
Judgement: generated unmapped status is correct. There is no valid local target for this benign biochemical disorder.
IEMbase is primarily recording a biochemical trait rather than a clinically expressive disease phenotype. That makes it a poor fit for mapping to existing neurodevelopmental or 22q11.2 deletion entries.
Curation actions
- Do not map isolated PRODH deficiency to 22q11.2 deletion syndrome.
- Keep hyperprolinemia type I separate from ALDH4A1 hyperprolinemia type II and ALDH18A1 P5CS deficiency.
- If curated, first decide whether clinically benign hyperprolinemia type I is sufficiently disease-like for a DisMech entry.