Combined Saposin Deficiency
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Combined Saposin Deficiency
Combined Saposin Defiency is a very rare Metabolic disorder, metabolic and genetic disorder that is caused by the mutation in a gene Prosaposin, PSAP. This disease belongs to Lysosomal storage disease, Lysosomal Storage Diseases(LSDs). Because of complete saposin deficiency, it can cause clinical features of 4 diseases(Gaucher's disease, Gaucher’s Disease, Metachromatic leukodystrophy, Metachromatic Leukodystrophy, Farber disease, Farber’s Disease, Krabbe disease, Krabbe’s Disease) to be apparent. Cause PSAPD is caused by mutations in a Prosaposin, PSAP gene, which is located on the long arm of chromosome 10 (10q22.1). PSAPD is inherited in a Autosomal Recessive fashion. Symptoms Symptoms usually start in infancy or in neonatal age. The signs of this disease are respiratory failure, hepatosplenomegaly, Dysphagia, poor feeding, myoclonus, Hyperkinesia, hyperkinetic movements, Clonus, clonic seizures, leukodystrophy, hypotonia, Eye disease, abnormality of eye movement and ...
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Metabolic Disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are Dominance (genetics), autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when ...
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Clonus
Clonus is a set of involuntary and rhythmic muscular contractions and relaxations. Clonus is a sign of certain neurological conditions, particularly associated with upper motor neuron lesions involving descending motor pathways, and in many cases is accompanied by spasticity (another form of hyperexcitability). Unlike small spontaneous twitches known as fasciculations (usually caused by lower motor neuron pathology), clonus causes large motions that are usually initiated by a reflex. Studies have shown clonus beat frequency to range from three to eight Hz on average, and may last a few seconds to several minutes depending on the patient's condition. Signs Clonus is most commonly found at the ankle, specifically with a dorsiflexion/plantarflexion movement (up and down). Some case studies have also reported clonus in the finger, toe, and laterally in the ankle (as opposed to the typical up and down motion). * Ankle (medial gastrocnemius) * Patella ( knee cap) * Triceps su ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ...
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Globotriaosylceramide
Globotriaosylceramide is a globoside. It is also known as CD77, Gb3, GL3, and ceramide trihexoside. It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT. It is metabolized by alpha-galactosidase, which hydrolyzes the terminal alpha linkage. Clinical significance Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. Globotriaosylceramide is also one of the targets of Shiga toxin, which is responsible for pathogenicity of enterohemorrhagic ''Escherichia coli ''Escherichia coli'' ( )Wells, J. C. (2000) Longman Pronunciation Dictionary. Harlow ngland Pearson Education Ltd. is a gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus '' Escherichia'' that is commonly fo . ...
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G Protein-coupled Receptor
G protein-coupled receptors (GPCRs), also known as seven-(pass)-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptors, and G protein-linked receptors (GPLR), form a large group of evolutionarily related proteins that are cell surface receptors that detect molecules outside the cell and activate cellular responses. They are coupled with G proteins. They pass through the cell membrane seven times in the form of six loops (three extracellular loops interacting with ligand molecules, three intracellular loops interacting with G proteins, an N-terminal extracellular region and a C-terminal intracellular region) of amino acid residues, which is why they are sometimes referred to as seven-transmembrane receptors. Text was copied from this source, which is available under Attribution 2.5 Generic (CC BY 2.5) licence/ref> Ligands can bind either to the extracellular N-terminus and loops (e.g. glutamate receptors) or to the binding site wi ...
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Ceramide
Ceramides are a family of waxy lipid molecules. A ceramide is composed of sphingosine and a fatty acid joined by an amide bond. Ceramides are found in high concentrations within the cell membrane of Eukaryote, eukaryotic cells, since they are component lipids that make up sphingomyelin, one of the major lipids in the lipid bilayer. Contrary to previous assumptions that ceramides and other sphingolipids found in cell membrane were purely supporting structural elements, ceramide can participate in a variety of cellular lipid signaling, signaling: examples include regulating cell differentiation, differentiation, cell proliferation, proliferation, and programmed cell death (PCD) of Cell (biology), cells. The word ''ceramide'' comes from the Latin ''cera'' (wax) and ''amide''. Ceramide is a component of vernix caseosa, the waxy or cheese-like white substance found coating the skin of newborn human infants. Pathways for ceramide synthesis There are three major pathways of ceramide ...
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Glucocerebroside
Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Research conducted on glucocerebrosides has shown that glucocerebrosides help support cellular functions in humans, such as signaling pathways as well as being possibly linked to diseases. Certain symptoms of diseases such as Gaucher's and Parkinson's disease have been linked to abnormal changes in glucocerebroside metabolism, such as changes in glucocerebroside levels and regulation. Researchers have also started to study the role of glucocerebrosides in cancer. In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. In 2019, research conducted by Lee et al., shows that gluco ...
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Sulfatide
Sulfatide, also known as 3-O-sulfogalactosylceramide, SM4, or sulfated galactocerebroside, is a class of sulfolipids, specifically a class of sulfoglycolipids, which are glycolipids that contain a sulfate group. Sulfatide is synthesized primarily starting in the endoplasmic reticulum and ending in the Golgi apparatus where ceramide is converted to galactocerebroside and later sulfated to make sulfatide. Of all of the galactolipids that are found in the myelin sheath, one fifth of them are sulfatide. Sulfatide is primarily found on the extracellular leaflet of the myelin plasma membrane produced by the oligodendrocytes in the central nervous system and in the Schwann cells in the peripheral nervous system. However, sulfatide is also present on the extracellular leaflet of the plasma membrane of many cells in eukaryote, eukaryotic organisms. Since sulfatide is a multifunctional molecule, it can be used in multiple biological areas. Aside from being a membrane component, sulfatide func ...
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Galactosylceramide
A galactosylceramide, or galactocerebroside is a type of cerebroside consisting of a ceramide with a galactose residue at the 1-hydroxyl moiety. The galactose is cleaved by galactosylceramidase. Galactosylceramide is a marker for oligodendrocytes in the brain, whether or not they form myelin. Additional images File:Sphingolipid.png, Sphingolipid See also * Alpha-Galactosylceramide * Krabbe disease * Myelin Myelin Sheath ( ) is a lipid-rich material that in most vertebrates surrounds the axons of neurons to insulate them and increase the rate at which electrical impulses (called action potentials) pass along the axon. The myelinated axon can be lik ... References External links *CHEMBL110111 Glycolipids {{biochemistry-stub ...
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Optic Atrophy
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and a person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. Optic neuropathy is often called optic atrophy, to describe the loss of some or most of the fibers of the optic nerve. Signs and symptoms The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. In many cases, only one eye is affected and the person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. People may also ...
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Neurological Disorder
Neurological disorders represent a complex array of medical conditions that fundamentally disrupt the functioning of the nervous system. These disorders affect the brain, spinal cord, and nerve networks, presenting unique diagnosis, treatment, and patient care challenges. At their core, they represent disruptions to the intricate communication systems within the nervous system, stemming from genetic predispositions, environmental factors, infections, structural abnormalities, or degenerative processes. The impact of neurological disorders is profound and far-reaching. Conditions like epilepsy create recurring seizures through abnormal electrical brain activity, while multiple sclerosis damages the protective myelin covering of nerve fibers, interrupting communication between the brain and body. Parkinson's disease progressively affects movement through the loss of dopamine-producing nerve cells, and strokes can cause immediate and potentially permanent neurological damage by inter ...
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Eye Disease
This is a partial list of human eye diseases and disorders. The World Health Organization (WHO) publishes a classification of known diseases and injuries, the International Statistical Classification of Diseases and Related Health Problems, or ICD-10. This list uses that classification. H00-H06 Disorders of eyelid, lacrimal system and orbit * (H02.1) Ectropion * (H02.2) Lagophthalmos * (H02.3) Blepharochalasis * (H02.4) Ptosis (eyelid), Ptosis * (H02.5) Stye, an acne type infection of the sebaceous glands on or near the eyelid. * (H02.6) Xanthelasma of eyelid * (H03.0*) Parasitic infestation of eyelid in diseases classified elsewhere ** Dermatitis of eyelid due to Demodex species ( B88.0+ ) ** Parasitic infestation of eyelid in: *** leishmaniasis ( B55.-+ ) *** loiasis ( B74.3+ ) *** onchocerciasis ( B73+ ) *** phthiriasis ( B85.3+ ) * (H03.1*) Involvement of eyelid in other infectious diseases classified elsewhere ** Involvement of eyelid in: *** herpesviral (herpes simplex) ...
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