SettingsLipid storage disorders
Acid lipase disease
Acid lipase disease is a name used to describe two related disorders of fatty acid metabolism.
Acid lipase disease is a name used to describe two related disorders of fatty acid metabolism.
Batten disease
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood.
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood.
Canavan disease
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that ...
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that ...
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.
Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.
Cholesteryl ester storage disease
Cholesteryl Ester Storage Disease is the late onset phenotype for Lysosomal Acid Lipase Deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman dis...
Cholesteryl Ester Storage Disease is the late onset phenotype for Lysosomal Acid Lipase Deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman dis...
Fabry disease
Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (...
Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (...
Farber disease
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare autosomal rece...
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare autosomal rece...
Gangliosidosis
Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides.
Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides.
Gaucher's disease
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.
GM1 gangliosidoses
The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but par...
The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but par...
GM2 gangliosidoses
The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase.
The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase.
GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord.
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord.
Infantile neuronal ceroid lipofuscinosis
INCL, also known as Infantile Neuronal Ceroid Lipofuscinoses or Santavuori Disease is a form of NCL and inherited as a recessive autosomal genetic trait.
INCL, also known as Infantile Neuronal Ceroid Lipofuscinoses or Santavuori Disease is a form of NCL and inherited as a recessive autosomal genetic trait.
Jansky-Bielschowsky disease
Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.
Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.
Krabbe disease
Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
Lipid storage disorder
Lipid storage disorders are a group of inherited metabolic disorders in which harmful amounts of lipids accumulate in some of the body’s cells and tissues.
Lipid storage disorders are a group of inherited metabolic disorders in which harmful amounts of lipids accumulate in some of the body’s cells and tissues.
Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase (LAL) Deficiency happens when the body does not produce enough active LAL enzyme.
Lysosomal Acid Lipase (LAL) Deficiency happens when the body does not produce enough active LAL enzyme.
Lysosomal acid lipase deficiency
Lysosomal Acid Lipase Deficiency happens when the body does not produce enough active LAL enzyme.
Lysosomal Acid Lipase Deficiency happens when the body does not produce enough active LAL enzyme.
Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies.
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies.
Multiple sulfatase deficiency
Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase e...
Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase e...
Neuronal ceroid lipofuscinosis
Neuronal Ceroid Lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigm...
Neuronal Ceroid Lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigm...
Niemann-Pick disease, SMPD1-associated
Niemann-Pick disease, SMPD1-associated refers to two different types of Niemann-Pick disease which are associated with the SMPD1 gene.
Niemann-Pick disease, SMPD1-associated refers to two different types of Niemann-Pick disease which are associated with the SMPD1 gene.
Niemann-Pick disease, type C
Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.
Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.
Niemann–Pick disease
Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases.
Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases.
Pelizaeus-Merzbacher disease
Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorde...
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorde...
Schindler disease
Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a rare congenital metabolic disorder in humans.
Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a rare congenital metabolic disorder in humans.
Sulfatidosis
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
Tay-Sachs disease
Tay–Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.
Tay–Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.
Tay–Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder.
Tay–Sachs disease is an autosomal recessive genetic disorder.
Wolman disease
Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme ...
Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme ...