n
Alternative form of adrenoleukodystrophy [(medicine) A degenerative genetic disease in which myelin is lost from nerve cells in the brain]
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Glycogen storage disease type IV
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A rare autosomal-recessive lysosomal storage disorder caused by deficient activity of the enzyme aspartylglucosaminidase.
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A rare autosomal recessive disorder that arises from a defect in lysosomes, leading to a decrease in phagocytosis, causing recurrent pyogenic infections, partial albinism and peripheral neuropathy.
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paroxysmal cold hemoglobinuria
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A human gene, Dyskeratosis congenita 1, a small nucleolar ribonucleoprotein in which mutations are responsible for Zinsser-Cole-Engman syndrome.
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(medicine) Enterovirus infection in the blood system.
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A rare X-linked (inherited) lysosomal storage disease.
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A very rare lysosomal storage disease marked by a deficiency in ceramidase that causes an accumulation of lipids, leading to abnormalities in the joints, liver, throat, tissues, and central nervous system.
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A rare autosomal-recessive disorder in which the enzyme fucosidase is not properly used in the cells to break down fucose.
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A genetic disease in which lipid accumulates in cells and certain organs.
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(medicine, pathology) A disease of the skin and other organs, resulting in palpable purpura, often with joint and abdominal pain, and occasionally leading to kidney disease.
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A lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase.
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(pathology, medicine) A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase.
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Alternative form of Hurler syndrome [(pathology, medicine) A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase.]
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(pathology) A disease associated with a deficiency of myelin
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A rare familial form of vitamin B₁₂ deficiency caused by malfunction of a receptor in the terminal ileum.
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Inability to fully metabolize lactose.
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Alternative form of leukodystrophy [(medicine) Any of a group of disorders characterized by progressive degeneration of the white matter of the brain, caused by imperfect growth or development of the myelin sheath that acts as an insulator around nerve fibres.]
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(medicine) Any of a group of disorders characterized by progressive degeneration of the white matter of the brain, caused by imperfect growth or development of the myelin sheath that acts as an insulator around nerve fibres.
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Glycogen storage disease type V, a metabolic disorder caused by a deficiency of myophosphorylase.
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Alternative form of meningococcemia [Meningococcal septicemia, a form of sepsis caused by the bacterium Neisseria meningitidis.]
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(medicine) A genetic metabolic disorder caused by a deficiency in the enzyme ARSA (arylsulfatase A);
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Initialism of metachromatic leukodystrophy. [(medicine) A genetic metabolic disorder caused by a deficiency in the enzyme ARSA (arylsulfatase A);]
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(medicine, endocrinology) A rare metabolic disorder in which the body cannot process certain types of sugar molecules known as glycosaminoglycans.
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(pathology) Any of several inherited lysosomal storage diseases characterized by an accumulation of mucopolysaccharides and lipids in tissues
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(medicine) Cystic fibrosis.
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(medicine) Any of a group of fatal inherited metabolic disorders associated with sphingomyelin accumulation in the central nervous system.
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(medicine, dermatology) A cutaneous condition seen typically in thin young women who report great physical and psychological stress.
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Glycogen storage disease type II
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neonatal onset multisystem inflammatory disease
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Alternative form of Refsum's disease [(medicine) A peroxisomal neurological disease that results in the malformation of myelin sheaths around nerve cells.]
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(medicine) A peroxisomal neurological disease that results in the malformation of myelin sheaths around nerve cells.
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Alternative form of Reye's syndrome [(medicine) A potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver.]
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(medicine) An autosomal-recessive lysosomal storage disease characterized by early physical impairment and mental retardation.
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A lipid storage disorder caused by an inherited deficiency in creating functional beta-hexosaminidases A and B.
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(pathology) A disease caused by the presence of pathogenic organisms, especially bacteria, or their toxins, in the bloodstream, characterised by chills and fever.
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A rare form of mucolipidosis caused by a deficiency of the enzyme sialidase.
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A congenital failure of cholesterol synthesis, with effects ranging from mild intellectual disability to lethal malformations.
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A form of lysosomal storage disease resulting in a proliferation of sulfatide.
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(medicine) An autosomal-recessive genetic disorder in which copper accumulates in tissues, resulting in neurological or psychiatric symptoms and liver disease.
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A rare genetic disorder caused by deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA), necessary to break down certain lipids.
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The genetic disorder that causes this.
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(medicine) A rare congenital disorder characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain and the inability to beta-oxidize very-long-chain fatty acids.
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