Metachromatic LeukodystrophyNext Topic
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal lipid storage disorder caused by the deficiency of arylsulfatase A, an enzyme involved in the degradation of sulfatide. This membrane lipid can be found in various cell types, but is present in particularly high concentrations in the myelin of the central and peripheral nervous systems. Deficiency of arylsulfatase A presents with the clinical features outlined in Table 1 and results in the accumulation of sulfatide, leading to progressive demyelination of the central and peripheral nervous systems and premature patient demise.
| Affected Organ/System |
Clinical Feature |
| Neurologic |
Central Nervous System
mental deterioration, loss of speech, hypotonia, muscle weakness, gait disturbances, hyporeflexia (early) dysarthria, dystonia, chorea, ataxia,
spastic tetraplegia (later), extensor plantar responses (later), seizures, bulbar palsies, progression to tetraplegia and decerebrate state,
cerebral white matter abnormalities, elevated CSF protein
Peripheral Nervous System
progressive polyneuropathy, demyelination, EMG shows neuropathic changes, delayed nerve conduction velocity
Behavioral/psychiatric Manifestations
Behavioral disturbances, emotional lability, poor school performance, hallucinations, delusions, disorganized thinking
|
| Gastrointestinal |
Gall bladder dysfunction, Cholecystitis |
| Genitourinary |
Urinary incontinence |
| Eyes |
Optic atrophy |
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