Treatable Intellectual Disability

Sjögren Larsson Syndrome

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
ALDH3A2 (AR)

Diagnostic Test
Fatty Aldehyde Dehydrogenase Enzyme Activity

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SIGNS & SYMPTOMS

Neurological
Spasticity

Non-Neurological
Juvenile macular dystrophy, retinitis pigmentosa, ichtyosis

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THERAPY

Treatment
Diet (low fat, medium chain & essential fatty acid supplements) & Zileuton

Level of Evidence
5

Clinical Practice
Individual Basis

Treatment Effect
Stabilizes clinical deterioration; improves systemic manifestations



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Sjogren Larsson Syndrome

Sjögren Larsson Syndrome

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. Prevalence is estimated at 1/250,000 worldwide, but the syndrome is more common in Sweden due to a founder effect. Clinical features develop prenatally and during infancy. (Source: Orphanet)

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This disease is not (yet) listed on their website.