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thiamine-responsive megaloblastic anemia syndrome

MeSH: C536510ORPHA: 49827

Contents

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

Overview

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness

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 thiamine-responsive megaloblastic anemia syndrome, sourced from HPO and Orphanet clinical annotations.

Sensorineural hearing impairmentRetinal dystrophyVisual lossOptic atrophyDiabetes mellitusPallorLethargyStrokeVentricular septal defectAtrial septal defectCongestive heart failureCardiac arrestThrombocytopeniaMegaloblastic anemiaDiarrheaAnorexiaHeadacheParesthesiaShort statureParoxysmal atrial tachycardia

Classification & Codes

MeSH Code

C536510

Orphanet Code

ORPHA:49827
thiamine-responsive megaloblastic anemia syndrome
MeSHC536510
OrphanetORPHA:49827
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO