Skip to content

IEMbase 0616: PLPBP-related pyridoxal 5-prime-phosphate binding protein deficiency

Scope

Field Value
IEMbase ID 616
Nosology 21.6.02.01
Gene PLPBP
External IDs OMIM:617290; ORPHA:3006
Generated mapping UNMAPPED
Candidate DisMech targets None exact; Pyruvate_Dehydrogenase_Deficiency.yaml is a lexical false candidate
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents PLPBP / PROSC-deficient vitamin B6-dependent epilepsy as an autosomal recessive treatable disorder. Biochemical rows include low CSF pyridoxal 5-prime-phosphate, low CSF homovanillic acid, increased CSF 5-hydroxytryptophan, normal-to-increased plasma 3-methoxytyrosine, normal-to-increased urinary vanillactic acid, and normal-to-increased plasma lactate.

Clinical rows include neonatal/infantile seizures, burst-suppression EEG, irritability, motor regression, delayed or absent speech, optional microcephaly, optional hypertonia or hypotonia, optional respiratory distress, and optional dysmorphic features including prominent forehead, upslanting palpebral fissures, and syndactyly. IEMbase includes a vitamin B6 treatment row.

DisMech phenotype coverage

No exact PLPBP target was identified locally. The best lexical candidate, Pyruvate_Dehydrogenase_Deficiency.yaml, is an E3-binding / lactate-related false positive and should not receive PLPBP phenotype rows.

The vitamin B6 treatment row should be source-reviewed before import because the cited treatment reference appears to be a broader pyridoxine-dependent epilepsy treatment source rather than necessarily PLPBP-specific evidence.

Concordance and completeness

Judgement: true local gap.

This is a high-priority treatable epilepsy gap because the IEMbase record has a clear therapeutic signal and a distinctive CSF PLP / biogenic-amine profile.

Curation actions

  • Create or identify an exact PLPBP / EPVB6D target before import.
  • Reject Pyruvate_Dehydrogenase_Deficiency.yaml as an exact mapping.
  • Preserve vitamin B6/PLP treatment, CSF PLP and biogenic-amine markers, burst-suppression EEG, seizure, regression, speech, tone, respiratory, and dysmorphic prompts.