OrphanDrug
OrphanDrug
Pharma Knowledge Base

hereditary folate malabsorption

MeSH: C562799ORPHA: 90045

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

medical condition

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hereditary folate malabsorption, sourced from HPO and Orphanet clinical annotations.

Recurrent urinary tract infectionsGlossitisAtypical behaviorPallorSeizureGlobal developmental delayHyperreflexiaFailure to thriveThrombocytopeniaPancytopeniaIncreased total eosinophil countMegaloblastic anemiaDiarrheaNausea and vomitingGastroesophageal refluxAnorexiaRecurrent respiratory infectionsCerebral calcificationAbnormality of the immune systemImmunodeficiencySkeletal muscle atrophyDecreased circulating immunoglobulin concentrationPeripheral neuropathyAbnormality of movementCheilitis

Classification & Codes

MeSH Code

C562799

Orphanet Code

ORPHA:90045
hereditary folate malabsorption
MeSHC562799
OrphanetORPHA:90045
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO