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Coarse Facial Features
Coarse facial features or coarse facies describes 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 Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual. 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 *Fuco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Errors Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GM1 Gangliosidosis
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration. GM1 is a rare lysosomal storage disorder with a prevalence of 1 to every 100,000 to 200,000 live births worldwide, although rates are higher in some regions. Cause GM1 Gangliosidoses disorders are caused by mutations in the GLB1 gene, which codes for lysosomal hydrolase, acid beta-galactosidase (β-gal). Low levels of β-gal cause an accumulation of GM1 gangliosides. They are inherited, autosomal recessive sphingolipidoses, a class of lipid storage disorders. Diagnosis Diagnosis of GM1 can be obtained by genetic and enzymatic testing. Types GM1 has three forms classified by age of onset. * Type 1: early infantile * Type 2: late i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mental Retardation (X-linked Raynaud Type)
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mental Retardation (X-linked - Epilepsy - Progressive Joint Contractures - Typical Face)
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
McCune–Albright Syndrome
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in '' GNAS'', which encodes the alpha-subunit of the Gs heterotrimeric G protein. It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright. Signs and symptoms McCune–Albright syndrome is suspected when two or more of the following features are present: * Fibrous dysplasia * Hyperpigmented skin lesions with characteristic features, including jagged "coast of Maine" borders and tendency occur along the midline of the body. These lesions are historically termed café au lait macules, however the term "cafe-au-lait" only describes their appearance on lighter-skinned individuals. * Hyperfunctioning endocrine disease Patients may have one or many of these features, which may occur in any combination. As such, the clinical presentation of patients w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mannosidosis (alpha B Lysosomal)
Mannosidosis is a deficiency in mannosidase, an enzyme. There are two types: Alpha-mannosidosis and Beta-mannosidosis. See also *Swainsonine Swainsonine is an indolizidine alkaloid. It is a potent inhibitor of Golgi alpha-mannosidase II, an immunomodulator, and a potential chemotherapy drug. As a toxin in locoweed (likely its primary toxin) it also is a significant cause of economi ... References {{Glycoproteinoses Glycoprotein metabolism disorders ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Job Syndrome
Work or labor (or labour in British English) is intentional activity people perform to support the needs and wants of themselves, others, or a wider community. In the context of economics, work can be viewed as the human activity that contributes (along with other factors of production) towards the goods and services within an economy. Work is fundamental to all societies, but can vary widely within and between them, from gathering in natural resources by hand, to operating complex technologies that substitute for physical or even mental effort by many human beings. All but the simplest tasks also require specific skills, equipment or tools, and other resources (such as material for manufacturing goods). Cultures and individuals across history have expressed a wide range of attitudes towards work. Outside of any specific process or industry, humanity has developed a variety of institutions for situating work in society. Besides objective differences, one cultu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Sialic Acid Storage Disorder
Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. ISSD is the most severe form of the sialic acid storage diseases. Babies with this condition have severe developmental delay, weak muscle tone ( hypotonia), and failure to gain weight and grow at the expected rate ( failure to thrive). They may have unusual facial features that are often described as "coarse," s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunodeficiency Due To Defect In MAPBP-interacting Protein
Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID. In clinical settings, immunosuppression by some drugs, such as steroids, can either be an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti- rejection measure and in patients with an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised individual ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
I Cell Disease
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to lysosomes within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic I-cells, or "inclusion cells" seen microscopically. In addition, the defective lysosoma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypomelanosis Of Ito
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify. Albinism can reduce the survivability of an animal; for example, it has been suggested that albino alligators have an average survival span of only 24 hours due to the lack of protection from UV radiation and their lack of camouflage to avoid predators. It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the iris allowing the blood vessels of the retina to be visible), however this is not the case for some forms of albinism. Familiar albino animals include in-bred strains of laboratory animals (rats, mice and rabbits), but populations of naturally occurring albino animals exist in the wil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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