Tämä Sivu Perustuu Tekijänoikeuksien Alaista Wikipedia "" (); Sitä Käytetään Alla Creative Commons Nimeä-Tarttuva 3.0 Unported License.Voit Levittää Sitä Edelleen, Kirjaimellisesti Tai Muunnettu, Kunhan Noudatat Ehtoja Cc-By-Sa. Primary immune deficiency diseases are those caused by inherited genetic mutations. 1 It is caused by compound heterozygous or homozygous variants in the SLC22A5 gene, which encodes for the organic cation transporter type 2 (OCTN2). Primary carnitine deficiency is an autosomal recessive metabolic disorder caused by a deficiency in the carnitine transporters. Táto Stránka Je Založená Na Autorsky Chránený Článku Wikipédie "" (); Je Používaný V Rámci Creative Commons Attribution-Sharealike 3.0 Unported Licencie.Môžete Distribuovať Ho Doslovne Alebo Modifikované, Za Predpokladu, Že Ste V Súlade S Podmienkami Cc-By-Sa. ^ a b c Systemic primary carnitine deficiency Orphanet ^ a b Online Mendelian Inheritance in Man (OMIM): 212140 ^ Carnitine transporter deficiency - newbornscreening.info ^ Activation and Transportation of Fatty Acids for Metabolism via Carnitine Shuttle ^ Hmr.fo - Faroe Islands Ministry of Health - Information om CTD (Carnitin Transporter Defekt) Archived 2014-02-22 at the Wayback Machine 9) Although most beta-oxidation is mitochondrial, super-long- … Kekurangan karnitin primer sistemik (SPCD) adalah bayi bawaan kesalahan pengangkutan asid lemak disebabkan oleh kecacatan pada pengangkut yang bertanggungjawab untuk bergerak karnitin melintasi membran plasma.Carnitine adalah asid amino penting untuk metabolisme asid lemak. SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.This protein is involved in the active cellular uptake of carnitine.It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. The initial signs and symptoms of this disorder occur during infancy or early childhood and often include brain function abnormalities, cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. A deficiency of carnitine results in accumulation of fats in the liver, muscle, and heart. Absence of this gene can be the primary cause of low carnitine levels. Genetic Conditions: S. From Genetics Home Reference. The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. "Homo sapiens carnitine palmitoyltransferase 2 (CPT2), mRNA - Nucleotide - NCBI". Severe metabolic crisis: 50 mg/kg IV (max 300mg) IV bolus, then repeat 50mg/kg IV over 24h in divided doses. Holocarboxylase Synthetase is required to attach biotin to other molecules. Systemic primary carnitine deficiency (CDSP) is a rare metabolic disorder in which the body cannot properly process fats into energy. Deficiency in … Adults are typically able to adapt to deficiency whereas children are not able to as well. 7) Know that carnitine acyl-transferase-I is in the cytosol; CAS-II is in the mitochondria. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria). Ketika karnitin tidak dapat diangkut ke jaringan, oksidasi asam lemak terganggu, menyebabkan berbagai gejala … Carnitine can be synthesized by most humans; about 1 in 350 males is unable to synthesize it due to genetic causes on the X chromosome. Carnitine is involved in the oxidation of fatty acids, and involved in systemic primary carnitine deficiency. It is known as OCTN2 and its main role is production of carnitine inside body cells. Learn more. It is caused by a mutation in CPT1A on chromosome 11. Primary carnitine deficiency is a genetic disorder of the cellular carnitine-transporter system that usually manifests itself by five years of age with symptoms of cardiomyopathy, skeletal-muscle weakness, and hypoglycemia. Systemic primary carnitine deficiency. 2 OCTN2 has an important role in transporting carnitine across … Secondary primary carnitine deficiency can develop secondary to other genetic mitochondrial disorders, in chronic kidney failure, and as a side effect of some medications. Secondary carnitine deficiency in children may present with loss of muscle tone, failure to thrive, recurrent infection, swelling of the brain, hypoglycemia, heart disturbances, and may be fatal. It is caused by a mutation in CPT1A on chromosome 11.. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Defisiensi karnitin primer sistemik (SPCD) adalah bawaan lahir kesalahan transportasi asam lemak disebabkan oleh cacat pada pengangkut yang bertanggung jawab untuk bergerak karnitin melintasi membran plasma.Karnitin adalah asam amino penting untuk metabolisme asam lemak. Ncbi.nlm.nih.gov. Szisztémás primer karnitin hiány (SPCD) egy veleszületett zsírsavtranszport hibája a mozgásért felelős szállítóeszköz hibája okozta karnitin át a plazma membrán.A karnitin fontos aminosav a zsírsav-anyagcserében. Signs and symptoms. Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. Low serum carnitine is found in systemic primary carnitine deficiency, a genetic disease, and causes chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. Academic disciplines Business Concepts Crime Culture Economy Education Energy Events Food and drink Geography Government Health Human behavior Humanities Knowledge Law Life Mind Objects Organizations People Philosophy Society Sports Universe World Arts Lists Glossaries. Systemic primary carnitine deficiency (SPCD) [6] This syndrome, and others below, is almost certain to be diagnosed in infancy. It is caused by a mutation in CPT1A on chromosome 11. Apabila karnitin tidak dapat diangkut ke dalam tisu, pengoksidaan asid lemak mengalami gangguan, membawa … Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Primary carnitine deficiency: 990mg tablet or 1g solution PO 1-3 times per day. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. Sadly, there is a caveat to this diet. You have to take extreme precaution if you have the following: Diabetes Pancreatitis Liver failure Lipid metabolism Primary carnitine deficiency Carnitine palmitoyltransferase deficiency Carnitine translocase deficiency Porphyrias Pyruvate kinase deficiency Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. L-Carnitine, acetyl-l-carnitine, and propionyl-l-carnitine are available in dietary supplement pills or powders, with a daily amount of 0.5 to 1 g considered to be safe. Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. Repeat 50mg/kg IV daily PRN. Secondary or acquired immune deficiencies...Chronic granulomatous disease (CGD): a deficiency in NADPH oxidase enzyme, which causes failure to generate oxygen radicals. [1] [3] It is also a drug approved by the Food and Drug Administration to treat primary and certain secondary carnitine-deficiency syndromes secondary to inherited diseasess . Trang Này ĐượC DựA Trên Các Bài ViếT Wikipedia Có BảN QuyềN "" (); Nó ĐượC Sử DụNg DướI Creative Commons Ghi Công-Chia Sẻ Tương Tự 3.0 Chưa ChuyểN ĐổI GiấY Phép.BạN Có Thể Phát Hành LạI Nó, Đúng Nguyên Văn HoặC SửA ĐổI, Cung CấP RằNg BạN Tuân Thủ Các ĐiềU KhoảN CủA Cc … Tizimli birlamchi karnitin etishmovchiligi (SPCD) tug'ma tug'ma yog 'kislotasini tashish xatosi harakatlanish uchun javobgar bo'lgan transport vositasidagi nuqson tufayli kelib chiqadi karnitin bo'ylab plazma membranasi.Karnitin yog 'kislotasi metabolizmi uchun muhim aminokislotadir. Secondary biotin deficiency (Multiple Carboxylase Deficiency) Is caused by two inherited defects in metabolism: Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Ez Az Oldal Alapja A Szerzői Jog Által Védett Wikipedia Cikket "" (); Használják Az Creative Commons Attribution-Sharealike 3.0 Unported License.Terjesztheted, Szó Szerint, Vagy Módosított, Feltéve, Hogy Megfelelnek A Feltételek A Cc-By-Sa. It is caused by a mutation in CPT1A on chromosome 11. Hierdie Bladsy Is Gebaseer Op Die Kopiereg Wikipedia Artikel "" (); Dit Gebruik Word Onder Die Creative Commons Erkenning-Insgelyks Deel 3.0 Unported Lisensie.Jy Kan Dit Herversprei, Woordeliks Of Verander, Op Voorwaarde Dat Jy Voldoen Aan Die Bepalings Van Die Cc-By-Sa. [source: Ketogenic diet Wiki] Is Keto for you? این صفحه در مقاله ویکیپدیا کپی رایت بر اساس "" (نویسنده); آن است که تحت استفاده مجوز Creative Commons Attribution-Sharealike در 3.0 سازگار نشده منتشر شدهاست.شما ممکن است آن توزیع مجدد، کلمه به کلمه و یا اصلاح، ارائه که شما با شرایط Cc-By-Sa مطابق. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation with an estimated incidence between 1/40 000 and 1/120 000. Dysfunction of this process leads to the genetic disorders primary carnitine deficiency, carnitine palmitoyltransferase I deficiency, carnitine palmitoyltransferase II deficiency and carnitine-acylcarnitine translocase deficiency. Introduction. 2013-03-25. Primary carnitine deficiency - SLC22A5 (carnitine transporter) ... Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Primary Carnitine deficiency can be caused mainly due to genetic defects due to absence of gene that makes protein in your body and transports carnitine. E71.4 Disorders of carnitine metabolism Excludes1: Muscle carnitine palmitoyltransferase deficiency (E71.314) E71.40 Disorder of carnitine metabolism, unspecified Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. หน้านี้จะขึ้นอยู่กับบทความวิกิพีเดียที่มีลิขสิทธิ์ "" (ผู้เขียน); มันถูกใช้ภายใต้ ครีเอทีฟคอมมอนส์แบบเดียวกัน 3.0 Unported ใบอนุญาต. - also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency It is caused by a mutation in CPT1A on chromosome 11. Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). 8) Nausea, vomiting + seizures are the most common Sx of severe MCAD / carnitine deficiency.
primary carnitine deficiency wiki
Tämä Sivu Perustuu Tekijänoikeuksien Alaista Wikipedia "" (); Sitä Käytetään Alla Creative Commons Nimeä-Tarttuva 3.0 Unported License.Voit Levittää Sitä Edelleen, Kirjaimellisesti Tai Muunnettu, Kunhan Noudatat Ehtoja Cc-By-Sa. Primary immune deficiency diseases are those caused by inherited genetic mutations. 1 It is caused by compound heterozygous or homozygous variants in the SLC22A5 gene, which encodes for the organic cation transporter type 2 (OCTN2). Primary carnitine deficiency is an autosomal recessive metabolic disorder caused by a deficiency in the carnitine transporters. Táto Stránka Je Založená Na Autorsky Chránený Článku Wikipédie "" (); Je Používaný V Rámci Creative Commons Attribution-Sharealike 3.0 Unported Licencie.Môžete Distribuovať Ho Doslovne Alebo Modifikované, Za Predpokladu, Že Ste V Súlade S Podmienkami Cc-By-Sa. ^ a b c Systemic primary carnitine deficiency Orphanet ^ a b Online Mendelian Inheritance in Man (OMIM): 212140 ^ Carnitine transporter deficiency - newbornscreening.info ^ Activation and Transportation of Fatty Acids for Metabolism via Carnitine Shuttle ^ Hmr.fo - Faroe Islands Ministry of Health - Information om CTD (Carnitin Transporter Defekt) Archived 2014-02-22 at the Wayback Machine 9) Although most beta-oxidation is mitochondrial, super-long- … Kekurangan karnitin primer sistemik (SPCD) adalah bayi bawaan kesalahan pengangkutan asid lemak disebabkan oleh kecacatan pada pengangkut yang bertanggungjawab untuk bergerak karnitin melintasi membran plasma.Carnitine adalah asid amino penting untuk metabolisme asid lemak. SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.This protein is involved in the active cellular uptake of carnitine.It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. The initial signs and symptoms of this disorder occur during infancy or early childhood and often include brain function abnormalities, cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. A deficiency of carnitine results in accumulation of fats in the liver, muscle, and heart. Absence of this gene can be the primary cause of low carnitine levels. Genetic Conditions: S. From Genetics Home Reference. The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. "Homo sapiens carnitine palmitoyltransferase 2 (CPT2), mRNA - Nucleotide - NCBI". Severe metabolic crisis: 50 mg/kg IV (max 300mg) IV bolus, then repeat 50mg/kg IV over 24h in divided doses. Holocarboxylase Synthetase is required to attach biotin to other molecules. Systemic primary carnitine deficiency (CDSP) is a rare metabolic disorder in which the body cannot properly process fats into energy. Deficiency in … Adults are typically able to adapt to deficiency whereas children are not able to as well. 7) Know that carnitine acyl-transferase-I is in the cytosol; CAS-II is in the mitochondria. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria). Ketika karnitin tidak dapat diangkut ke jaringan, oksidasi asam lemak terganggu, menyebabkan berbagai gejala … Carnitine can be synthesized by most humans; about 1 in 350 males is unable to synthesize it due to genetic causes on the X chromosome. Carnitine is involved in the oxidation of fatty acids, and involved in systemic primary carnitine deficiency. It is known as OCTN2 and its main role is production of carnitine inside body cells. Learn more. It is caused by a mutation in CPT1A on chromosome 11. Primary carnitine deficiency is a genetic disorder of the cellular carnitine-transporter system that usually manifests itself by five years of age with symptoms of cardiomyopathy, skeletal-muscle weakness, and hypoglycemia. Systemic primary carnitine deficiency. 2 OCTN2 has an important role in transporting carnitine across … Secondary primary carnitine deficiency can develop secondary to other genetic mitochondrial disorders, in chronic kidney failure, and as a side effect of some medications. Secondary carnitine deficiency in children may present with loss of muscle tone, failure to thrive, recurrent infection, swelling of the brain, hypoglycemia, heart disturbances, and may be fatal. It is caused by a mutation in CPT1A on chromosome 11.. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Defisiensi karnitin primer sistemik (SPCD) adalah bawaan lahir kesalahan transportasi asam lemak disebabkan oleh cacat pada pengangkut yang bertanggung jawab untuk bergerak karnitin melintasi membran plasma.Karnitin adalah asam amino penting untuk metabolisme asam lemak. Ncbi.nlm.nih.gov. Szisztémás primer karnitin hiány (SPCD) egy veleszületett zsírsavtranszport hibája a mozgásért felelős szállítóeszköz hibája okozta karnitin át a plazma membrán.A karnitin fontos aminosav a zsírsav-anyagcserében. Signs and symptoms. Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. Low serum carnitine is found in systemic primary carnitine deficiency, a genetic disease, and causes chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. Academic disciplines Business Concepts Crime Culture Economy Education Energy Events Food and drink Geography Government Health Human behavior Humanities Knowledge Law Life Mind Objects Organizations People Philosophy Society Sports Universe World Arts Lists Glossaries. Systemic primary carnitine deficiency (SPCD) [6] This syndrome, and others below, is almost certain to be diagnosed in infancy. It is caused by a mutation in CPT1A on chromosome 11. Apabila karnitin tidak dapat diangkut ke dalam tisu, pengoksidaan asid lemak mengalami gangguan, membawa … Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Primary carnitine deficiency: 990mg tablet or 1g solution PO 1-3 times per day. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. Sadly, there is a caveat to this diet. You have to take extreme precaution if you have the following: Diabetes Pancreatitis Liver failure Lipid metabolism Primary carnitine deficiency Carnitine palmitoyltransferase deficiency Carnitine translocase deficiency Porphyrias Pyruvate kinase deficiency Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. L-Carnitine, acetyl-l-carnitine, and propionyl-l-carnitine are available in dietary supplement pills or powders, with a daily amount of 0.5 to 1 g considered to be safe. Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. Repeat 50mg/kg IV daily PRN. Secondary or acquired immune deficiencies...Chronic granulomatous disease (CGD): a deficiency in NADPH oxidase enzyme, which causes failure to generate oxygen radicals. [1] [3] It is also a drug approved by the Food and Drug Administration to treat primary and certain secondary carnitine-deficiency syndromes secondary to inherited diseasess . Trang Này ĐượC DựA Trên Các Bài ViếT Wikipedia Có BảN QuyềN "" (); Nó ĐượC Sử DụNg DướI Creative Commons Ghi Công-Chia Sẻ Tương Tự 3.0 Chưa ChuyểN ĐổI GiấY Phép.BạN Có Thể Phát Hành LạI Nó, Đúng Nguyên Văn HoặC SửA ĐổI, Cung CấP RằNg BạN Tuân Thủ Các ĐiềU KhoảN CủA Cc … Tizimli birlamchi karnitin etishmovchiligi (SPCD) tug'ma tug'ma yog 'kislotasini tashish xatosi harakatlanish uchun javobgar bo'lgan transport vositasidagi nuqson tufayli kelib chiqadi karnitin bo'ylab plazma membranasi.Karnitin yog 'kislotasi metabolizmi uchun muhim aminokislotadir. Secondary biotin deficiency (Multiple Carboxylase Deficiency) Is caused by two inherited defects in metabolism: Holocarboxylase Synthetase Deficiency - Autosomal Recessive disorder. Ez Az Oldal Alapja A Szerzői Jog Által Védett Wikipedia Cikket "" (); Használják Az Creative Commons Attribution-Sharealike 3.0 Unported License.Terjesztheted, Szó Szerint, Vagy Módosított, Feltéve, Hogy Megfelelnek A Feltételek A Cc-By-Sa. It is caused by a mutation in CPT1A on chromosome 11. Hierdie Bladsy Is Gebaseer Op Die Kopiereg Wikipedia Artikel "" (); Dit Gebruik Word Onder Die Creative Commons Erkenning-Insgelyks Deel 3.0 Unported Lisensie.Jy Kan Dit Herversprei, Woordeliks Of Verander, Op Voorwaarde Dat Jy Voldoen Aan Die Bepalings Van Die Cc-By-Sa. [source: Ketogenic diet Wiki] Is Keto for you? این صفحه در مقاله ویکیپدیا کپی رایت بر اساس "" (نویسنده); آن است که تحت استفاده مجوز Creative Commons Attribution-Sharealike در 3.0 سازگار نشده منتشر شدهاست.شما ممکن است آن توزیع مجدد، کلمه به کلمه و یا اصلاح، ارائه که شما با شرایط Cc-By-Sa مطابق. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation with an estimated incidence between 1/40 000 and 1/120 000. Dysfunction of this process leads to the genetic disorders primary carnitine deficiency, carnitine palmitoyltransferase I deficiency, carnitine palmitoyltransferase II deficiency and carnitine-acylcarnitine translocase deficiency. Introduction. 2013-03-25. Primary carnitine deficiency - SLC22A5 (carnitine transporter) ... Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Primary Carnitine deficiency can be caused mainly due to genetic defects due to absence of gene that makes protein in your body and transports carnitine. E71.4 Disorders of carnitine metabolism Excludes1: Muscle carnitine palmitoyltransferase deficiency (E71.314) E71.40 Disorder of carnitine metabolism, unspecified Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. หน้านี้จะขึ้นอยู่กับบทความวิกิพีเดียที่มีลิขสิทธิ์ "" (ผู้เขียน); มันถูกใช้ภายใต้ ครีเอทีฟคอมมอนส์แบบเดียวกัน 3.0 Unported ใบอนุญาต. - also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency It is caused by a mutation in CPT1A on chromosome 11. Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). 8) Nausea, vomiting + seizures are the most common Sx of severe MCAD / carnitine deficiency.
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