Arakawa's syndrome I

MeSH: C537425ORPHA: 51208

Overview

genetic disorder

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 Arakawa's syndrome I, sourced from HPO and Orphanet clinical annotations.

Abnormal circulating histidine concentrationAbnormality of folate metabolismAbnormal circulating enzyme concentration or activityIncreased blood folate concentrationAbnormal concentration of acylcarnitine in the urineDelayed speech and language developmentMegaloblastic anemiaAnemiaSevere intellectual disabilityMild global developmental delayNeurodevelopmental delayAutismAtrial septal defect

Classification & Codes

MeSH Code

C537425

Orphanet Code

ORPHA:51208
Arakawa's syndrome I
MeSHC537425
OrphanetORPHA:51208
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Arakawa's syndrome I | OrphanDrug