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Pharma Knowledge Base

alpha-aminoadipic and alpha-ketoadipic aciduria

ORPHA: 79154

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 alpha-aminoadipic and alpha-ketoadipic aciduria, sourced from HPO and Orphanet clinical annotations.

Alpha-aminoadipic aciduria2-hydroxyadipic aciduriaElevated circulating 2-aminoadipic acid concentrationMicrocephalyAutismDelayed speech and language developmentIntellectual disabilitySeizureHypotoniaGlobal developmental delayAttention deficit hyperactivity disorder

Classification & Codes

Orphanet Code

ORPHA:79154
alpha-aminoadipic and alpha-ketoadipic aciduria
OrphanetORPHA:79154
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO