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3-hydroxy-3-methylglutaryl-CoA lyase deficiency

MeSH: C538324ORPHA: 20

Contents

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

Overview

medical condition

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 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, sourced from HPO and Orphanet clinical annotations.

ApneaModerate intellectual disabilityHypsarrhythmiaHypotensionKetonuriaSevere intellectual disabilityFatigueMicrocephalyAtaxiaSpasticityDysarthriaHypoglycemic comaDilated cardiomyopathyCardiac arrestAcute pancreatitisHypothermiaLeukoencephalopathySpastic hemiparesisMetabolic acidosisNonketotic hypoglycemiaHyperammonemia3-Methylglutaric aciduriaApathySeizureHypotoniaLethargyAnemiaRecurrent hypoglycemiaAnorexiaHyperuricemiaIncreased circulating lactate concentrationHepatomegalyEEG abnormalityEpisodic vomitingTachypneaElevated circulating hepatic transaminase concentrationLipid accumulation in hepatocytesReye syndrome-like episodesProlonged prothrombin timeJaundiceEdemaPallorMild intellectual disabilityComaHyporeflexiaEncephalopathyMyoclonusWeight lossDecreased total leukocyte countThrombocytosisDehydrationFeverIncreased total leukocyte countDiarrhea

Classification & Codes

MeSH Code

C538324

Orphanet Code

ORPHA:20
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
MeSHC538324
OrphanetORPHA:20
Treatments0 drug(s)
Symptoms on record54 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO