There is no cure for congenital<unk> , and in general, the approach to management is proactive, with the aim of preventing emerging complications. After a full physical examination, physicians should focus on the known complications of<unk> , such as hydrocephalus, otitis media, hearing loss, dental caries, joint symptoms, kyphoscoliosis, and mental state. Treatment is often limited to reducing or controlling the symptoms of the condition by, for example, medications to control seizures, hearing aids to ameliorate hearing loss, and routine physical therapy to assist with muscular pain and weakness. In some cases, a wheelchair may be appropriate if muscle or spinal impairments immobilize the individual affected. Hematopoietic stem cell transplantation (HSCT) can be a treatment option for some patients, however the risk-benefit profile is more favourable in younger patients, therefore ensuring an early diagnosis is critical for this to be a viable option. The rationale is that enzyme-producing donor cells repopulate the host tissue and transfer enzyme to nearby enzyme-deficient host cells. Despite early reports to the contrary, The possible benefits of HSCT must be weighed against the overall risk of procedure related morbidity and mortality. The benefits are greater in younger patients before complications have developed, and also transplant related complications are more frequent and severe in older patients. Enzyme replacement therapy (ERT) is a therapeutic alternative in a number of lysosomal storage diseases. The overall principle of ERT is that a recombinantly produced version of the deficient enzyme is introduced into the blood stream, from where it is internalised by the cells and reaches the lysosomes by mannose-6-phosphate receptor mediated uptake, thus replacing the missing endogenous enzyme. An ERT is approved for use in the European Union.
Alpha-mannosidosis
Beta-mannosidosis
Galactosialidosis
Aspartylglucosaminuria
Essential fructosuria
Alkaptonuria
Hawkinsinuria
Glycosuria