<unk>  is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (e.g. swollen joints, curved spine), hearing loss and recurrent infections. Although children with the condition are often born seemingly normal, their condition deteriorates with age.<unk>  can impact on a patient's quality of life in many ways, including their ability to live independently, socialise or find employment. Generally, phenotypes of<unk>  patients are not clearly distinguishable, which makes a prediction of the clinical course for an individual patient challenging. Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of<unk>  difficult. The main symptoms can also be shared with those of other lysosomal storage disorders, such as mucopolysaccharidosis. Given the progressive nature of the disease, the earlier a correct diagnosis is achieved the better. The condition is often diagnosed and treated using a multi-disciplinary approach, involving paediatricians, orthopaedics, ophthalmologists, otologists, neurologists, immunologists, neurosurgeons and physiotherapists. A diagnosis of<unk>  is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation, a detailed patient history, and results from the diagnostic tests described below: A. Oligosaccharides in urine A preliminary investigation may be performed to measure mannose-rich oligosaccharide concentrations in urine. Elevated urinary excretion of mannose-rich oligosaccharides is suggestive, but not diagnostic of the disease. B. Acid<unk> -mannosidase activity Diagnosis is confirmed by measuring residual<unk> -mannosidase activity in leukocytes or other nucleated cells via a fluorometric assay. This is the most reliable diagnostic method, along with genetic testing. C. Genetic testing Identification of disease-causing mutations is achieved using DNA from peripheral blood cells, by polymerase chain reaction (PCR) amplification of all 24 MAN2B1 exons, followed by DNA sequencing.
Alpha-mannosidosis
Beta-mannosidosis
Galactosialidosis
Aspartylglucosaminuria
Essential fructosuria
Alkaptonuria
Hawkinsinuria
Glycosuria