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Fucosidosis
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982. Symptoms and signs Symptoms are highly variable, with mild cases being able to live to within the third or fourth decade. Symptoms include: * Coarse facial features * Enlarged liver, spleen, and/or heart * Intellectual disability * Seizures * Abnormal bone formation of many bones * Progressive deterioration of brain and spinal cord * Increased or decreased perspiration Severe cases can develop life-threatening complications early in childhood. In the more severe forms (type 1), "patients have no vascular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coarse Facial Features
Coarse facial features (coarse facies) is a constellation of facial features that are present in many inborn errors of metabolism. Features include: * large, bulging head * prominent scalp veins * "saddle-like, flat bridged nose with broad, fleshy tip" * large lips and tongue * small, widely spaced and/or malformed teeth * hypertrophic alveolar ridges and/or gums The head tends to be longer than normal from front to back, with a bulging forehead. This is because of the premature fusion of skull bones in the affected person. Causes Several conditions are associated with coarse facial features. *Acromegaly * Alpha-mannosidosis type II * Aspartylglycosaminuria * Battaglia Neri syndrome * Börjeson–Forssman–Lehmann syndrome * Chromosome 6q deletion syndrome * Coarse face - hypotonia - constipation *Congenital hypothyroidism * Dandy–Walker malformation (with mental retardation basal ganglia disease and seizures) * Dyggve–Melchior–Clausen syndrome * Fucosidosis type 1 * Fuco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycoprotein Storage Diseases
Glycoproteinosis are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins. __TOC__ Types * (E77.0) Defects in post-translational modification of lysosomal enzymes ** Mucolipidosis II (I-cell disease) ** Mucolipidosis III (pseudo-Hurler polydystrophy) * (E77.1) Defects in glycoprotein degradation ** Aspartylglucosaminuria ** Fucosidosis ** Mannosidosis ** Sialidosis (mucolipidosis I) Another type, recently characterized, is galactosialidosis Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuram .... References External links NIH Glycoprotein metabolism disorders {{endocrine-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sialidosis
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate in bodily tissues. Presentation Symptoms of ML I are either present at birth or develop within the first year of life. In many infants with ML I, excessive swelling throughout the body is noted at birth. These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size ( macroglossia). Many infants with ML I are also born with skeletal malformations such as hip dislocation. Infants often develop sudden involuntary muscle contractions (called myoclonus) and have red spots in their eyes ( cherry red spots). They are often unable to coordinate vo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Disorder
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fucose
Fucose is a hexose deoxy sugar with the chemical formula C6H12O5. It is found on ''N''-linked glycans on the mammalian, insect and plant cell surface. Fucose is the fundamental sub-unit of the seaweed polysaccharide fucoidan. The α(1→3) linked core of fucoidan is a suspected carbohydrate antigen for IgE-mediated allergy. Two structural features distinguish fucose from other six-carbon sugars present in mammals: the lack of a hydroxyl group on the carbon at the 6-position (C-6) (thereby making it a deoxy sugar) and the L -configuration. It is equivalent to 6-deoxy--galactose. In the fucose-containing glycan structures, fucosylated glycans, fucose can exist as a terminal modification or serve as an attachment point for adding other sugars. In human ''N''-linked glycans, fucose is most commonly linked α-1,6 to the reducing terminal β-''N''-acetylglucosamine. However, fucose at the non-reducing termini linked α-1,2 to galactose forms the H antigen, the substructure o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sphingolipids
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, which are a set of aliphatic amino alcohols that includes sphingosine. They were discovered in brain extracts in the 1870s and were named after the mythological sphinx because of their enigmatic nature. These compounds play important roles in signal transduction and cell recognition. Sphingolipidoses, or disorders of sphingolipid metabolism, have particular impact on neural tissue. A sphingolipid with a terminal hydroxyl group is a ceramide. Other common groups bonded to the terminal oxygen atom include phosphocholine, yielding a sphingomyelin, and various sugar monomers or dimers, yielding cerebrosides and globosides, respectively. Cerebrosides and globosides are collectively known as glycosphingolipids. Structure The long-chain bases, sometimes simply known as sphingoid bases, are the first non-transient products of '' de novo'' sphingolipid synthesis in both yeast and mammals. These compoun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Penn Vet
The University of Pennsylvania School of Veterinary Medicine, commonly referred to as Penn Vet, is the veterinary school of the University of Pennsylvania. Penn Vet is one of only two Ivy League veterinary schools in the United States. Established in 1884, Penn Vet is the only veterinary school developed in association with a medical school, and is one of only four private veterinary schools in the nation. Penn Vet's two campuses, located in Philadelphia and Kennett Square, Pennsylvania offer students learning opportunities in campanion animal medicine at the Matthew J. Ryan Veterinary Hospital and large animal medicine at New Bolton Center. As part of the University of Pennsylvania, Penn Vet is a partner in its biomedical research and teaching centers. Students can learn first-hand how veterinary medicine and research impacts human lives, as well as those of animals. Over 7,000 veterinarians have graduated from the school, the only veterinary school in Pennsylvania. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
English Springer Spaniel
The English Springer Spaniel is a breed of gun dog in the Spaniel group traditionally used for flushing and retrieving game. They are descended from the Norfolk or Shropshire Spaniels of the mid-19th century; the breed has diverged into separate show and working lines. It is closely related to the Welsh Springer Spaniel and very closely to the English Cocker Spaniel; less than a century ago, springers and cockers would come from the same litter. The smaller "cockers" were used in woodcock hunting while their larger littermates were used to flush, or "spring", other game birds. In 1902, The Kennel Club recognized the English Springer Spaniel as a distinct breed. They are used as sniffer dogs on a widespread basis. Description The English Springer Spaniel is a medium-sized compact dog. Its coat is moderately long with feathering on the legs and tail. It is a well proportioned, balanced dog with a gentle expression. This breed represents perhaps the greatest divergence bet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Journal Of Human Genetics
The ''European Journal of Human Genetics'' is a monthly peer-reviewed scientific journal published by the Nature Publishing Group on behalf of the European Society of Human Genetics. It covers all aspects of human genetics. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal had a 2024 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 4.1. References External links * Academic journals associated with international learned and professional societies of Europe Biology in Europe English-language journals Genetics in the United Kingdom Medical genetics journals Monthly journals Nature Research academic journals Academic journals established in 1993 {{genetics-journal- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Boston Children's Hospital
Boston Children's Hospital (formerly known as Children's Hospital Boston until 2013) is the main pediatric training and research hospital of Harvard Medical School, Harvard University. It is a nationally ranked, freestanding acute care children's hospital located at the centre of Harvard Longwood Medical and Academic Area in Boston, Massachusetts. The hospital is home to the world's largest pediatric research enterprise, and it is the leading recipient of pediatric research funding from the National Institutes of Health (NIH). It provides comprehensive pediatric specialties and subspecialties to infants, children, teens, and young adults aged 0–21 throughout Massachusetts, the United States, and the world. The hospital also sometimes treats adults that require pediatric care. The hospital uses the Brigham and Women's Hospital's rooftop helipad and is an ACS verified level I pediatric trauma center, one of three in Boston. The hospital features a regional pediatric intensiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
