hexosaminidase A deficiency

См. также в других словарях:

• Hexosaminidase A deficiency — Lack of an enzyme that causes Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is deposited is called GM2… …   Medical dictionary

• hexosaminidase activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary

• Hexosaminidase — β N acetylhexosaminidase Hexosaminidase A (Hex A) Identifiers EC number 3.2.1.52 …   Wikipedia

• Deficiency, hexosaminidase A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… …   Medical dictionary

• Hexosaminidase A — Deficiency of this enzyme causes Tay Sachs disease, a progressive, fatal neurologic disorder concentrated in people of European Jewish (Ashkenazi) descent. * * * hexosaminidase A n the more thermolabile hexosaminidase that is deficient in both… …   Medical dictionary

• Deficiency, hex-A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… …   Medical dictionary

• hexosaminidase — General term for enzymes cleaving N acetylhexose ( e.g., N acetylglucosamine) residues from gangliosidelike oligosaccharides. At least four specific enzymes carrying out this type of reaction are known: α N acetyl d galactosaminidase, α N acetyl… …   Medical dictionary

• Hex-A deficiency — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… …   Medical dictionary

• HEXB — Hexosaminidase B (beta polypeptide), also known as HEXB, is a human gene.cite web | title = Entrez Gene: HEXB hexosaminidase B (beta polypeptide)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=3074|… …   Wikipedia

• Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… …   Wikipedia

• GM2-gangliosidosis, type 1 — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary