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Maple Syrup urine disease بالعربي

هو خلل وراثي في الجينات فالجسم لا يستطيع تكسير أجزاء عديدة من البروتين أثناء عملية الأيض. إن الشخص المصاب بهذا المرض لا يستطيع استخدام بعض مكونات من البروتين (بعض الأحماض الأمينية) وهي الليوسين والايزوليوسين و الفالين . وهذه الأحماض هامة للنمو والتطور ولكن تناولها بكثرة. Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis and during times of acute illness

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  1. Grade 12 Biology Project, Draw my Life video explaining Maple Syrup Urine Disease
  2. o acids leucine, valine, and isoleucine
  3. Maple syrup urine disease (MSUD) is an inherited metabolic disorder named for the characteristic maple-syrup smell of the affected individual's urine. There are three genes that cause MSUD, but the symptoms are identical regardless of which gene is causing the disease. MSUD type II is caused by harmful genetic changes (mutations) in the DBT gene
  4. o acids (BCAAs) leucine, isoleucine and valine, in the body
  5. Maple syrup urine disease (MSUD) is often diagnosed based on the results of a newborn screening test. The diagnosis is then confirmed by urine and blood testing. In some cases, especially in adolescents and adults, MSUD is diagnosed based on the symptoms, clinical exam, and the results of urine and blood testing
  6. Maple Syrup Urine disease is an autosomal recessive inherited condition... Lesson on Maple syrup Urine Disease: Pathogenesis, subtypes, diagnosis and treatment
  7. o acids. Infants with map..

Maple syrup urine disease - Wikipedi

  1. Maple syrup urine disease (MSUD) is an inherited metabolic disorder named for the characteristic maple syrup smell of the affected individuals's urine. There are three genes that cause MSUD, but the symptoms are identical regardless of which gene is causing the disease
  2. o acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of a
  3. Toddler Grayson McGill has a rare metabolic disorder where regular food can make him ill. Chad Farquharson and his husband Wayne McGill must take extreme ca..
  4. o acids (the building blocks of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into a
  5. o acids and their corresponding alpha-keto acids
  6. MAPLE SYRUP URINE DISEASE RESOURCES Useful Maple syrup urine disease resources. Blogs, websites, support groups, apps..
  7. o acids. Your body then uses those a

Maple syrup urine disease är en sällsynt ärftlig ämnesomsättningssjukdom som orsakas av en medfödd oförmåga att bryta ner vissa beståndsdelar i äggviteämnen, protein. När kroppen inte kan bryta ner dessa ämnen ansamlas de istället, och när de når alltför höga nivåer påverkar de bland annat hjärnan. Namnet på sjukdomen kommer av att personer med sjukdomen får en karakteristisk lönnsirapsluktande urin. Övriga symptom är attacker med epileptiska kramper, medvetslöshet. maple syrup urine disease A hereditary defect of protein metabolism in which the breakdown of amino acids is defective because of the absence of an oxidase enzyme. The result is the presence of keto-acids with an odour of maple syrup in the urine. The condition causes serious neurological disturbances and death within a few months of birth Find out information about maple syrup urine disease. A hereditary metabolic disorder caused by deficiency of branched-chain keto acid decarboxylase; characterized by the maple-syrup-like odor of urine Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by decreased enzyme activity of branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), responsible for catabolism of leucine (leu), valine (val), and isoleucine (isoleu)

Maple Syrup Urine Disease - YouTub

Intermittent forms of the disease may present later (5 months to 2 years of age) and can be precipitated by concomitant infection or a high protein intake 8. Pathology. Maple syrup urine disease is due to mutations in any aspect of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex 8. Genetic Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood Maple syrup urine disease (MSUD) is a life-threatening metabolic disorder. Metabolic disorders are conditions in which your body can't function normally because it can't properly convert food to energy to keep your body healthy. Protein is needed by the body to function normally. Proteins are made up of 20 different types of amino acids 1. J Maine Med Assoc. 1964 Jan;55:3-5. MAPLE SYRUP URINE DISEASE. SNYDERMAN SE, HOLT LE Jr. PMID: 14109847 [PubMed - indexed for MEDLINE] MeSH Term Metabolic & Molecular Basis of Inherited Disease Maple Syrup Urine Disease Clinical Manifestations Time Symptom/Sign 12-24 hours Maple syrup odor to cerumen Elevated BCAA 2-3 days Irritability, poor feeding Ketonuria 4-5 days Encephalopathy (lethargy, apnea, atypical movements 7-10 days Coma and respiratory failureTuesday, June 26, 2012 Total.

Maple Syrup Urine Disease! - YouTub

A number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA on chromosome 19q13, BCKDHB on chromosome 6q14, and DBT on chromosome 1p21.These genes encode 2 of the catalytic components of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), which catalyzes the catabolism. Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these Overview. Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. The disease prevents your body from breaking down certain amino acids. Amino acids are what remain after your. Maple syrup urine disease (MSUD) was first described in 1954 by Menkes et al. as a progressive neurologic degenerative disorder. In 1960, Dancis et al. established that the metabolic block in MSUD is at the decarboxylation of branched-chain alpha-ketoacids derived from leucine, isoleucine, and valine Maple syrup urine disease derives its name from the characteristic odor of the urine. Children with classic MSUD present with ketonuria and lethargy progressing to coma if not treated. Children may respond to thiamine therapy. diagnosis needs to be confirmed by quantitative plasma amino acids using ion-exchange chromatography. Find resources on MSUD to aid in caring for your child or patient

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- Maple syrup urine odor [UMLS: C0241584] - Branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate) [UMLS: C1855375] - Elevated plasma alloisoleucine [UMLS: C1855376] - Positive urine DNPH screening test [UMLS: C1855377 Hi all my son has been diagnosed with Classic MSUD Now he is 4 years old and he is going fine with the restrict dietary and frequently amino acids test we are thinking about liver transplantation however our don's doctor didn't encourage us to do so We always pray and ask God to cure our son and all those with MSUD disorde

Review the management options available for maple syrup urine disease. Explain the importance of improving care coordination among the interprofessional team to enhance the delivery of care for patients with maple syrup urine disease. Author(s) / Contributors Disclosure of Conflicts of Interest Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominantly caused by Variants in BCKDHA, BCKDHB, and DBT genes encoding the E1α, E1β, and E2 subunits of BCKD. Maple Syrup (Urine) Disease. Differential Diagnosis: Maple syrup urine disease (MSUD); hydroxyprolinemia. Condition Description: In MSUD, leucine, isoleucine, and valine (branched chain amino acids) cannot be metabolized further than their α-ketoacid derivatives. The amino acids and organic acids accumulate and produce severe toxicity Maple Syrup Urine Disease • MSUD is caused by a deficiency of the BCKD complex. This catalyzes the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs • Decarbozylation of the alpha-keto acids is the second step in the degradation pathway of • The BCKD complex has three. Synonyms for Maple syrup urinedisease in Free Thesaurus. Antonyms for Maple syrup urinedisease. 1 synonym for maple syrup urine disease: branched chain ketoaciduria. What are synonyms for Maple syrup urinedisease

Maple Syrup NOT Healthy! The devil is in the details

Maple syrup urine disease type 1B Synonyms: MSUD type IB, MSUD type 3 (formerly), MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase comple Synonyms for maple syrup urine in Free Thesaurus. Antonyms for maple syrup urine. 1 synonym for maple syrup urine disease: branched chain ketoaciduria. What are synonyms for maple syrup urine Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12-24 hours: Elevated concentrations of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of amino acid concentration.

Help others answering the top 25 questions of Maple syrup urine disease. Become golden ambassador answering these question Maple Syrup Urine Disease (MSUD) Alternate Name(s) • Branched chain ketoaciduria • Branched-chain alpha-keto acid dehydrogenase deficiency • BCKD deficiency • Keto acid decarboxylase deficiency • MSUD • Branched-chain 2-ketoacid dehydrogenase deficiency Analyte(s) Tested • Leucine, Valine Methodology Tandem Mass Spectrometr Maple syrup urine disease ( MSUD, MIM #248600) also known as branched-chain ketoaciduria, is a disorder affecting the aliphatic or branched-chain amino acids. It is caused by a deficiency of branched-chain . ›. Society guideline links: Maple syrup urine disease. and Genetics Collaborative (SERC): MSUD nutrition management guidelines.

Maple Syrup Urine Disease - NORD (National Organization

The name maple syrup urine disease may sound benign, but it is a serious medical disorder that needs diagnosis and treatment to reduce the chance of lifelong complications or even death. This metabolic condition is a recessive genetic disorder that affects the body's amino acids that are structured in branched chains Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup. Causes. Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes Maple Syrup Urine Disease (MSUD) is an autosomal recessive metabolic disorder that leads to the accumulation of branched-chain amino acids. Maple Syrup Urine Disease is caused by a defect in branched-chain ketoacid dehydrogenase, a Vitamin B1 (Thiamine)-dependent enzyme, which leads to the accumulation of the branched-chain amino acids:isoleucine, leucine, and valine

Molecular Biology of Maple Syrup Urine Disease. The BCKD complex is a multimeric mitochondrial enzyme composed of three catalytic subunits. The E1 portion of the complex is a thiamine pyrophosphate (TPP)-dependent decarboxylase with a subunit structure of α 2 β 2.The E2 portion is a dihydrolipoamide branched-chain transacylase composed of 24 lipoic acid-containing polypeptides Maple syrup urine disease can be detected in newborns through the routine newborn screening process. Since symptoms in newborns can become evident within the first few days of life, a positive screen means treatment can begin before symptoms worsen. Some symptoms can occur immediately that indicate a possible MSUD diagnosis Maple syrup urine disease (MSUD) is a genetic disorder that leads to progressive nervous system degeneration and for some, brain damage. The genetic defect that produces MSUD results in a defect in the enzyme called branched-chain alpha-keto acid dehydrogenase (BCKD), which is necessary for the breakdown of the amino acids leucine, isoleucine, and valine Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Nobukuni Y(1), Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I

Maple syrup urine disease Genetic and Rare Diseases

  1. Define maple syrup urine. maple syrup urine synonyms, maple syrup urine pronunciation, maple syrup urine translation, English dictionary definition of maple syrup urine. maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation.
  2. o acids, as observed in maple syrup urine disease (MSUD; 248600), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001)
  3. o acids. The 3 a
  4. okwasów o dziedziczeniu autosomalnym recesywnym.Występuje z częstością 1:200 000 urodzeń
  5. Synonyms for maple syrup in Free Thesaurus. Antonyms for maple syrup. 2 words related to maple syrup: sirup, syrup. What are synonyms for maple syrup

Maple Syrup Urine Disease Pathogenesis, Signs & Symptoms

Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants MSUD2 - Maple Syrup Urine Disease Type 2. Looking for abbreviations of MSUD2? It is Maple Syrup Urine Disease Type 2. Maple Syrup Urine Disease Type 2 listed as MSUD2. Maple Syrup Urine Disease Type 2 - How is Maple Syrup Urine Disease Type 2 abbreviated

maple syrup: see under maple maple, common name for the genus Acer of the Aceraceae, a family of deciduous trees and shrubs of the Northern Hemisphere, found mainly in temperate regions and on tropical mountain slopes.Acer, the principal genus, includes the many maples and the box elder. Click the link for more information. Background: Maple syrup urine disease (MSUD) is secondary to a deficiency of deshydrogenase complex of a cetoacid of branched-chain. This disease has a recessive autosomic inheritance, with an incidence of 1/185,000 newborns [1], without differences between male and female

Maple Syrup Urine Disease (MSUD) USMLE Step 1

Dancis Joseph, Levitz Mortimer, Miller Sheldon, Westall Roland G.. Maple Syrup Urine Disease Br Med J 1959; 1 :91. Thank you for your interest in spreading the word about The BMJ. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail 2. Frazier DM, Allgeier C, Horner C, et al: Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab 2014 Jul;112(3)210-217. 3. Strauss KA, Puffenberger EG, Morton DH: Maple Syrup Urine Disease. In GeneReviews. University of Washington, Seattle. 1993-2016. Updated 2013 May 9 with maple syrup urine disease receiving intravenous fluids. - Hyperglycaemia can be a problem. If the blood glucose exceeds the 8 mmol/l, start an insulin infusion using the local diabetic protocol rather than reducing the glucose intake. Strict supervision is essential. - Potassium can be added, if appropriate, once urine flow is normal and. Maple syrup urine disease (MSUD) Maple syrup urine disease (MSUD) is een erfelijke stofwisselingsziekte. De oorzaak is een verandering in het DNA (erfelijk materiaal). Aminozuren zijn de bouwstenen van eiwitten. Je krijgt ze bij het eten binnen. Maar bij MSUD kan een kind drie aminozuren (leucine, isoleucine en valine) niet goed afbreken

Sometimes, unusual urine odor indicates a medical condition or disease, such as: Cystitis (bladder inflammation) Dehydration. Diabetic ketoacidosis. Gastrointestinal-bladder fistula (abnormal connection between the intestines and bladder) Maple syrup urine disease (rare genetic condition that becomes apparent during infancy Symptoms of Maple syrup urine disease can vary. Patients with (MSUD) can get a coma, can have feeding difficulties when eating, vomiting, lethargy which is a lack of energy and enthusiasm, weight loss, irregular sleeping pasterns, alternating episodes of hypothermia, the distinctive smell of maple syrup in your urine and ear wax, and even death if left untreated Maple Syrup Urine Disease (MSUD) The 'building blocks' of protein are called amino acids. In MSUD, due to the lack of an enzyme, the body cannot properly deal with three amino acids, leucine, isoleucine and valine - collectively known as the branched chain amino acids (BCAAs) Maple Syrup Urine Disease Ib [BCKDHB]: Severe neurological complications including poor suck, irritability, lethargy, coma, death if untreated; even when treated, may result in impaired intellectual development or neurological complications. For detailed information about this disease visit : National Institutes of Health (NIH) > Carrier Frequency by Ethnicity > The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group.

Maple syrup urine disease (Concept Id: C0024776

The urine of these infants had an odor resembling that of maple syrup. MSUD is a branched-chain amino-acidopathy caused by a decreased activity of branched-chain a-ketoacid (BCKA) dehydrogenase, the second enzyme in the pathway for the degradation of leucine, isoleucine, and valine Maple Syrup Urine Disease Parent Information Star-G Maple Syrup Urine Disease Fact Sheet Genetics Home Reference MSUD Fact Sheet Family Support Information Oklahoma Support Oklahoma Family Network Oklahoma Family Voices Oklahoma SoonerStart Children and Youth with Special Health Care Needs Nati Maple syrup urine disease is caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKAD), the second enzymatic step in the degradative pathway of the BCAAs. BCKAD has four subunit components (E1a, E1b, E2, and E3). Pathogenic variants in both alleles encoding an Maple syrup urine disease (MSUD) is a genetic disorder and is caused by changes or mutations in some genes that signal the body to produce certain enzymes necessary for digestion and metabolism. Having such defective genes may result in either non-production or mal-functioning of the related enzymes

You've Been Storing Maple Syrup Wrong Your Entire Life

Grayson McGill's story - Living with Maple Syrup Urine

Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and. Maple syrup urine disease (MSUD) type 1B is an inherited metabolic disorder named for the characteristic maple syrup smell of the affected person's urine. If carefully treated with a low-protein diet, people with MSUD can live fairly normal lives. MSUD is caused by the lack of an enzyme needed to break down three amino acids: leucine. Slide 5: Maple Syrup Urine Disease (MSUD): General Characteristics. MSUD is inherited in an autosomal recessive fashion and estimated to have a worldwide prevalence of 1 in 185,000, with an increased frequency in Mennonite populations. It is caused by defects in any of the 3 BCKDHc subunits, resulting in an accumulation of the 2-oxoacids: 2.

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Maple syrup urine disease - NH

Although late-onset maple syrup urine disease is not an official diagnostic subcategory, it applies to anyone who is diagnosed later in life. When enzyme activity is sufficient enough to not cause symptoms in infancy but become evident in times of stress or illness, it can possibly lead to a late-onset diagnosis. Advertisement Maple syrup urine disease (MSUD) was first described in 1954 in a family with four successive affected newborns. Each died with a progressive neurologic disease in the first weeks of life. MSUD is caused by a deficiency in the ability to decarboxylate branched-chain amino acids Introduction. Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive disease characterized by disruption of the normal activity of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex, the second step in the catabolic pathway for the branched-chain amino acids (BCAAs) that include leucine, isoleucine, and valine Maple syrup urine disease (MSUD; OMIM 248600) is a heterogeneous organic aciduria disorder caused by the impairment of the branched-chain α-keto acid dehydrogenase complex (BCKD). BCKD is a mitochondrial complex, encoded by four nuclear genes (BCKDHA, BCKDHB, DBT, and DLD), which is involved in the metabolism of the branched-chain amino acids leucine, isoleucine, and valine (Morton et al.

Maple syrup urine disease, inherited metabolic disorder involving leucine, isoleucine, and valine (a group of branch chain amino acids). Normally, these amino acids are metabolized, step by step, by a number of enzymes, each of which is specific for each step in the metabolism of each amino acid.One of the metabolic steps consists of the decarboxylation of the α-keto acids of leucine. Maple syrup urine disease. More than 80 mutations in the BCKDHA gene have been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic form of the disorder, which becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor of affected infants' urine Definition of Maple syrup urine disease (msud) Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup Maple syrup urine disease: A hereditary disease that is due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. In maple syrup urine disease, the three branched-chain amino acids (leucine, isoleucine, and valine) cannot be metabolized (processed), and they build up in the blood, causing problems with brain function and leading to.

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Maple syrup urine disease synonyms, maple syrup urine

Maple syrup urine disease forum Diseasemap

Background. Maple syrup urine disease is a rare autosomal-recessive aminoacidopathy, caused by deficient branched-chain 2-keto acid dehydrogenase (BCKD), with subsequent accumulation of branched-chain amino acids (BCAAs): leucine, isoleucine and valine. While most cases of MSUD are classic, some 20% of cases are non-classic variants, designated. Children with maple syrup urine disease are unable to metabolize leucine, isoleucine, and valine. By-products of these amino acids build up, causing neurologic changes, including seizures and intellectual disability. These by-products also cause body fluids and substances, such as urine, sweat, and earwax, to smell like maple syrup Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body

Do you want to learn about maple syrup urine disease? Discover what maple syrup urine disease is at 10FAQ Health and stay better informed to make healthy living decisions Nutrition Guidelines Project . The Nutrition Management Guideline for Individuals with Maple Syrup Urine Disease (MSUD) is part of a larger project undertaken by the Southeast Newborn Screening and Genetics Collaborative (SERC) (HRSA Region 3) and Genetic and Metabolic Dietitians International (GMDI) to develop nutrition management guidelines for inherited metabolic disorders (IMD)

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