3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

ORPHA: 445038

Contents

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

Overview

3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13

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-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, sourced from HPO and Orphanet clinical annotations.

Renal cystNephrocalcinosisCataractDecreased total neutrophil count3-Methylglutaconic aciduriaPrimary microcephalyIntellectual disabilityHypotoniaSpasticityChoreoathetosisCerebellar atrophyEncephalopathyMyoclonusHyperreflexiaGrowth delayCerebral atrophyAbnormality of extrapyramidal motor functionAbnormal basal ganglia morphologyIncreased circulating lactate concentrationOpisthotonusDelayed gross motor developmentDevelopmental regressionBone marrow hypocellularityProgressive extrapyramidal movement disorderAbnormal pyramidal signFeeding difficultiesInfection associated neutropeniaRenal insufficiencyNystagmusHypothyroidismSeizureHypertoniaHepatic steatosisCardiomyopathyNeonatal hypoglycemiaRespiratory failureElevated circulating hepatic transaminase concentrationPneumothorax

Classification & Codes

Orphanet Code

ORPHA:445038

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Orphanet	`ORPHA:445038`
Treatments	0 drug(s)
Symptoms on record	38 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO