NCL, also known as Batten disease, is a group of 14 rare inherited lysosomal storage disorders affecting 1-4 children/100,000 live births. The major characteristic of NCL is an excessive accumulation of auto-fluorescent lipofuscin in both neuronal and other cells in the patients.

NCLs are inherited in an autosomal recessive pattern, and their frequencies vary based on the genetic mutations. Over 400 different mutations have been found in at least 13 different genes so far.

Symptoms include vision loss, seizures, motor and muscle dysfunction. Due to the non-specific symptoms, it is often misdiagnosed as one of the other neurological disorders.

Krabbe disease, or globoid-cell leukodystrophy (GLD), is a rare inherited lysosomal storage disorder that affects 1 in 250,000 live births.

This autosomal recessive disease is caused by a deficiency in the galactosylceramidase (GALC) enzyme, leading to an altered catabolism of galactosylceramide and an increase in the level of the toxic glycolipid, psychosine.

Symptoms include irritability, spasticity and seizures. Despite conducting many studies, no effective drug is currently available to halt and/or delay the progression of GLD.

Acid sphingomyelinase deficiency, including Niemann Pick Disease types A and B, is a type of lysosomal storage disease caused by genetic mutations in the acidic sphingomyelinase (ASMase) enzyme.

Deficiencies in ASMase or its activity results in a reduced break-down and increased levels of intracellular sphingomyelin, leading to cellular dysfunction and cell death (particularly neurons and glial cells).

Similar to other LSDs, symptoms are non-specific and can include motor and muscle dysfunction, hearing and vision loss.