The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define how common the diseases are, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess the supportive therapies currently used, and identify potential treatments. Laboratory tests will evaluate metabolic and genetic defects found in participants' blood and urine samples.

This is a longitudinal study of 100 individuals diagnosed with any one of the nine glycoproteinoses. Because of the small number of individuals diagnosed with these diseases, participants will be strongly encouraged to be evaluated in person at a study site, but inability to travel to a study site will not exclude a person from participating. This non-interventional study will also collect medical information about participants through questionnaire, phone interviews, and review of medical records regarding the person's usual medical care, including lab testing and x-rays or other imaging studies.

Participants who are evaluated at the study center will have a physical examination performed by a clinical geneticist and neuropsychological studies administered by the study psychologist. Neuropsychological studies assess intelligence, learning abilities, language skills, and ability to participate in day to day activities of life. Participants seen at the study center will have skeletal x-rays performed to evaluate the impact of the disease on the participant's bones.

Every participant will complete (or have a care provider complete for them)

• A questionnaire about their birth, development, and medical history
• An interview with study personnel (in person or via telephone)
• Follow up interviews on at least an annual basis to update the medical history

Each participant will be asked to

• Give a blood sample
• Give a urine sample
• Some participants may be asked to give a skin biopsy.

Inclusion Criteria:

Be an individual of any age diagnosed with one of the following conditions

• Aspartylglucosaminuria
• Fucosidosis
• Galactosialidosis
• alpha mannosidosis
• beta mannosidosis
• Mucolipidosis II
• Mucolipidosis III
• Schindler disease
• Sialidosis

Exclusion Criteria:

• not diagnosed with one of the nine glycoproteinoses listed above.

Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.