ORPHA:309246 Synonym(s): Hexosaminidase activator deficiency Prevalence: Inheritance: - Age of onset: Infancy ICD-10: E75.0 OMIM: 272750 UMLS: C0268275 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes [orpha.net]

CASE PRESENTATION Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. [semanticscholar.org]

Case presentation Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. [bmcpediatr.biomedcentral.com]

(#br) Case presentation(#br)Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. [kns.cnki.net]

Evidence is presented that this factor is defective in the AB-variant of infantile GM2 gangliosidosis which is characterized by an accumulation of glycolipids GM2 and GA2 despite the fact that the degrading enzymes, hexosaminidases A and B, retain normal [wwww.unboundmedicine.com]

Workup and physical examination Both homozygotes and heterozygotes have a reduced concentration of sphingomyelin in their RBCs. Affected individuals have deficient Hex A activity and normal levels of the Hex B isozyme. [emedicine.com]

Additionally, the biochemical workup for TSD could be completed with MUGS testing without collecting a new specimen. [mayocliniclabs.com]

The concept is differentiated from PATIENT REFUSAL OF TREATMENT see TREATMENT REFUSAL which originates with the patient and not the health professional. [healthdictionary.info]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. [en.wikipedia.org]

It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. Central In anatomy and medicine (as elsewhere), central is the opposite of "peripheral" which means away from the center. [healthdictionary.info]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. Central In anatomy and medicine (as elsewhere), central is the opposite of "peripheral" which means away from the center. [healthdictionary.info]

This cherry-red spot is the same finding that Warren Tay first reported in 1881, when he identified a case of Tay–Sachs disease, and it has the same etiology. [ citation needed ] The prognosis for AB variant is the same as for infantile Tay–Sachs disease [en.wikipedia.org]

Genatlas disease for GM2A Gene GM2 gangliosidosis,AB variant Relevant External Links for GM2A Genetic Association Database (GAD) GM2A Human Genome Epidemiology (HuGE) Navigator GM2A Atlas of Genetics and Cytogenetics in Oncology and Haematology: GM2A [genecards.org]

Summary Epidemiology The prevalence of the disease is 1 case per 320 000 live births. Clinical description Three variants have been described according to age of onset. The infantile form (type 1) begins between 3 and 6 months of age. [orpha.net]

Classification and naming for many genetic disorders reflects history, because most diseases were first observed and classified based on biochemistry and pathophysiology before genetic diagnosis was available. [en.wikipedia.org]

Journal Cell Mol Life Sci 65:351-3 (2008) DOI: 10.1007/s00018-008-7470-2 Reference PMID: 12019216 (GM2) Authors Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL Title Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed [genome.jp]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Tay-Sachs and Sandhoff diseases are lysosomal storage disorders, also referred to as GM2 gangliosidoses, caused by deficiencies [mayocliniclabs.com]

The adult form of the disease, however, is sometimes milder, and may only lead to muscle weakness that impairs walking or the ability to get out of bed. [18] Pathophysiology Sandhoff disease has an autosomal recessive pattern of inheritance. [ipfs.io]

Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. [ghr.nlm.nih.gov]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.es]

Prevention has been achieved through carrier testing in populations at risk and prenatal diagnosis. [jhu.pure.elsevier.com]

The resulting destabilization of the normal three-dimensional structure could prevent the normal processing and transport to the lysosome and/or could make! the mutant protein sensitive to proteolytic degradation. [kundoc.com]