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beta-ketothiolase deficiency

MeSH: C535434ORPHA: 134

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 beta-ketothiolase deficiency, sourced from HPO and Orphanet clinical annotations.

AcidosisMetabolic acidosisFeverVomitingHyperuricemiaTachypneaKetonuriaAbnormality of mental functionApathyComaExcessive daytime somnolenceThrombocytosisDehydrationIncreased total leukocyte countHyperammonemiaKetoacidosisDiarrheaReduced consciousnessCoughAgitationHypertensionEdemaPallorSeizureAtaxiaHypotoniaSpasticityHyporeflexiaMotor delayWeight lossHypoglycemiaAnorexiaIncreased circulating lactate concentrationHepatomegalyHypotensionHyperglycemiaExtrapyramidal dyskinesiaOral aversionAbnormal metabolic brain imaging by MRSBody odorMild intellectual disabilitySevere intellectual disability

Classification & Codes

MeSH Code

C535434

Orphanet Code

ORPHA:134
beta-ketothiolase deficiency
MeSHC535434
OrphanetORPHA:134
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO