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  • Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a
  • Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder
  • Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder
  • Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability
  • Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break
  • Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to
  • Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder
  • Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder
  • kinase in different types of cells.
  • disease are often affected by a specific conduction abnormality known as cardiac preexcitation. The type
  • People with this type of deletion usually do not have seizures. Trisomy 4 occurs when cells have three
  • that can be used by cells. Acid alpha-glucosidase normally breaks down a complex sugar called glycogen
  • Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in
  • Sialic acid storage disease is an inherited disorder that primarily affects the nervous system
  • Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic
  • three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most
  • Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in
  • Approximately 100 mutations in the AGL gene have been found to cause glycogen storage disease type
  • noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to
  • sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease
  • condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe
  • Wolman disease is a rare inherited condition involving the breakdown and use of fats and
  • affected individuals tend to survive into mid-adulthood.types of
  • that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1
  • Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in
  • Approximately 20 mutations in the GYS2 gene have been found to cause a form of glycogen storage
  • Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored
  • Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic
  • Fabry disease is an inherited disorder that results from the buildup of a particular type of fat
  • damage; the muscles, thyroid, pancreas, and testes may also be affected.types
  • several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the
  • Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell
  • At least four mutations in the GYS1 gene have been found to cause a form of glycogen storage
  • Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of
  • called Batten disease) that affect the nervous system and typically cause progressive problems with
  • NCLs (collectively called Batten disease) that affect the nervous system and typically cause
  • metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the
  • Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition
  • Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs
  • At least 17 mutations in the PYGL gene have been found to cause glycogen storage disease type VI
  • toxic substances and recycle different types of molecules. Researchers propose that the CLN3 protein may
  • Found in name or synonym: cone-type transducin alpha subunit
  • Approximately 130 mutations in the PYGM gene have been found to cause glycogen storage disease type
  • disease and airway obstruction are major causes of death in people with both types of MPS II.
  • impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease
  • underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the
  • structures that separate and support cells in many tissues. Type IV collagen alpha3-4-5 networks play an
  • At least 18 mutations in the SCN4A gene are known to cause paramyotonia congenita, a muscle disease
  • Related term: lysosomal storage disease
  • Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body

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  • People with this type of deletion usually do not have seizures. Trisomy 4 occurs when cells have three
  • that can be used by cells. Acid alpha-glucosidase normally breaks down a complex sugar called glycogen
  • Approximately 100 mutations in the AGL gene have been found to cause glycogen storage disease type
  • Approximately 20 mutations in the GYS2 gene have been found to cause a form of glycogen storage
  • At least four mutations in the GYS1 gene have been found to cause a form of glycogen storage
  • At least 17 mutations in the PYGL gene have been found to cause glycogen storage disease type VI
  • toxic substances and recycle different types of molecules. Researchers propose that the CLN3 protein may
  • Found in name or synonym: cone-type transducin alpha subunit
  • Approximately 130 mutations in the PYGM gene have been found to cause glycogen storage disease type
  • structures that separate and support cells in many tissues. Type IV collagen alpha3-4-5 networks play an
  • At least 18 mutations in the SCN4A gene are known to cause paramyotonia congenita, a muscle disease
  • Related term: lysosomal storage disease