infantile Krabbe disease

ORPHA: 206436

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
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 infantile Krabbe disease, sourced from HPO and Orphanet clinical annotations.

Abnormality of visual evoked potentialsIrritabilitySpasticityMental deteriorationUnexplained feversProgressive neurologic deteriorationIncreased CSF protein concentrationFunctional motor deficitSensorimotor neuropathyAbnormal circulating enzyme concentration or activityInappropriate cryingHyperpyrexiaReduced tissue galactocerebrosidase activityDecreased nerve conduction velocityHand clenchingFailure to thriveLower limb spasticityPsychomotor deteriorationAbnormal periventricular white matter morphologyDelayed brainstem auditory evoked response conduction timeAxial hypotoniaPeripheral neuropathyFeeding difficultiesElevated brain choline level by MRSReduced brain N-acetyl aspartate level by MRSReduced brain glutamate level by MRSHydrocephalusHearing impairmentVisual lossPhotophobiaBlindnessOptic atrophySeizureGlobal developmental delayHyporeflexiaEncephalopathyMuscle weaknessMyoclonusHyperreflexiaWeight lossVomitingGastroesophageal refluxRespiratory distressGeneralized myoclonic seizureOpisthotonusPoor head controlDiffuse cerebral atrophyIncreased intracranial pressureRecurrent infectionsRespiratory failureMuscle spasmShoulder girdle muscle weaknessMuscle stiffnessCachexiaTemperature instabilityHypointensity of cerebral white matter on MRIDecorticate rigidityAnkle clonusNasogastric tube feeding in infancyDecerebrate rigiditySlow pupillary light responseAbnormal heart rate variabilityIncreased head circumferenceDecreased head circumferenceHyperesthesiaNeck muscle weaknessHypopigmented skin patchesSpastic diplegiaLaryngomalaciaCherry red spot of the macula

Classification & Codes

Orphanet Code

ORPHA:206436

infantile Krabbe disease

Orphanet	`ORPHA:206436`
Treatments	0 drug(s)
Symptoms on record	70 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO