OrphanDrug
OrphanDrug
Pharma Knowledge Base

BH4-deficient hyperphenylalaninemia A

MeSH: C535325ORPHA: 13

Contents

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

Overview

human disease

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 BH4-deficient hyperphenylalaninemia A, sourced from HPO and Orphanet clinical annotations.

DystoniaMyoclonusHypotoniaOpisthotonusPtosisRestlessnessAgitationDepressionDelayed speech and language developmentPallorIntellectual disabilitySeizureAtaxiaGlobal developmental delayChoreoathetosisMotor delayHypertoniaHyperreflexiaDysphagiaRigidityBradykinesiaAbnormality of extrapyramidal motor functionChoreaClonusDrowsinessPoor head controlHyperkinetic movementsHypsarrhythmiaFallsExcessive salivationOculogyric crisis

Classification & Codes

MeSH Code

C535325

Orphanet Code

ORPHA:13
BH4-deficient hyperphenylalaninemia A
MeSHC535325
OrphanetORPHA:13
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO