left<unk>  is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades. The timing of the appearance of symptoms correlates with the severity of the disease. The onset of the most severe form of the disease occurs within the first months of life and involves skeletal abnormalities and intellectual disability, with rapid progression leading to death from primary central nervous system involvement or myopathy. However, most neonates with lysosomal storage disorders are asymptomatic and only rarely severely affected. This delays diagnosis, particularly as milder forms of the disease involve only mild to moderate intellectual disability, which progresses gradually during childhood or adolescence. The first decade of life is characterised by the development of hearing impairment, psychomotor delay, recurrent infections, especially upper airway infections, pulmonary infections and acute/serous otitis media infections. Significant changes in a number of facial features may occur, such as: protruding forehead; flattened nasal bridge; small nose; wide mouth; and widely spaced teeth. Muscular weakness or spinal abnormalities can occur due to the build-up of storage materials in the muscle.
Alpha-mannosidosis
Beta-mannosidosis
Galactosialidosis
Aspartylglucosaminuria
Essential fructosuria
Alkaptonuria
Hawkinsinuria
Glycosuria