Related Conditions & Treatments | Boston Children's Hospital

Condition

Alpha-mannosidosis

Alpha-mannosidosis is a condition characterized by an inability to break down complex sugars in the body’s cells.

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Condition

Batten Disease

Batten disease is a very rare genetic disorder that affects the brain and nervous system.

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Condition

Beta-mannosidosis

Beta-mannosidosis is a very rare genetic condition that affects the way certain types of sugar molecules are processed by the body.

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Condition

Danon Disease

Danon disease is a rare inherited disorder that affects many organ systems.

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Condition

Fabry Disease

Fabry disease is a lysosomal storage disorder that is progressive in nature and affects many of the body’s systems.

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Condition

Fucosidosis

Fucosidosis is a rare genetic condition characterized by an inability to properly break down certain sugars attached to specific proteins and fats in the body’s cells.

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Condition

GM1 Gangliosidosis

GM1 gangliosidosis, also called beta-galactosidase-1 deficiency, is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord.

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Condition

GM2 Gangliosidosis

GM2 gangliosidosis is a rare genetic disorder that progressively destroys nerve cells in the brain and spinal cord.

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Condition

Krabbe Disease

Krabbe disease is when an abnormal accumulation of fat molecules affects the cells in the nervous system.

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Condition

Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency is a subset of lysosomal acid lipase deficiency (LALD).

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Condition

MPS I (Hurler Syndrome)

Children with mucopolysarcharidosis type I (MPS I) have an abnormal accumulation of complex sugars in their cells, which affects many of the systems in their bodies.

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Condition

MPS II (Hunter Syndrome)

Children with mucopolysarcharidosis type II (MPS II) have an abnormal accumulation of complex sugars in their cells, which affects many systems in their bodies.

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Condition

Mucolipidosis I

Mucolipidosis I (ML I), or sialidosis, is a rare, inherited disorder in which genetic variations disrupt the normal activity of lysosomes in human cells.

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Condition

Mucolipidosis II

Mucolipidosis II (ML II), or I-cell disease, is a rare, inherited disorder in which genetic variations disrupt the normal activity of lysosomes in human cells.

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Condition

Mucolipidosis III

Mucolipidosis III (ML III) is a rare, inherited disorder in which genetic variations disrupt the normal activity of lysosomes in human cells.

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Condition

Mucopolysarcharidosis Type IVB

Mucopolysarcharidosis type IVB (MPS IVB), also known as Morquio syndrome type B, is a rare, inherited disorder in which genetic variations disrupt the normal activity of lysosomes in human cells.

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Condition

Mucopolysarcharidosis Type VI

Mucopolysarcharidosis type VI (MPS VI), also known as Maroteaux-Lamay syndrome, is a rare, inherited disorder in which genetic variations disrupt the normal activity of lysosomes in human cells.

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Condition

Multiple Sulfatase Deficiency

Multiple sulfatase deficiency is a complex, inherited disorder caused by a genetic mutation.

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Condition

Niemann-Pick Disease Type A

Niemann-Pick disease is a rare genetic condition that affects many of the body’s organs and systems, including the central nervous system.

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Condition

Niemann-Pick Disease Type B

Niemann-Pick disease type B is a rare genetic condition that affects many of the body’s organs and systems, including the central nervous system.

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Condition

Niemann-Pick Disease Type C

Niemann-Pick disease is a rare genetic condition that affects many of the body’s organs and systems, including the central nervous system.

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Condition

Pompe Disease

Pompe disease is caused by a genetic mutation that causes a buildup of complex sugars in the body’s tissues.

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Condition

Sanfilippo Syndrome

Sanfilippo syndrome (aka mucopolysaccharidosis type III (MPS III)) is a rare, inherited disorder that's classified as a lysosomal storage disorder (LSD).

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Condition

Sialic Acid Storage Disease

Sialic acid storage disease is a rare, inherited disorder that predominantly affects the central nervous system.

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