から減少の結果

898 B

143 M

19 M

820

717

to ~90 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

カテゴリ 先天性遺伝子オレゴン, 代謝 周波数 珍しい (U.S.) Usually seen in children.

年齢によって起こりやすくなります

症状のある期間で可能

関連医師の種類 family practitioner internist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

メチルマロン酸血症 - inhereted代謝性疾患の種類です に定義されています メチルマロン酸血症 Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age. いくつかの共通の現象 異常歩行 貧血 ビジョンの問題 弱点 いくつかの関連診断 1 - 7 of 89 診断 ハートナップ病 遺伝ataxias、成人型 フリードライヒの失調 薬物や毒素 頭蓋内腫瘍 ヒト免疫不全ウイルス感染症 特許孔は卵   より 私はありますか？ 'メチルマロン酸血症'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために 'メチルマロン酸血症' 1 - 5 of 35 診断テスト 羊水 メチルマロン酸血症 および 羊水 新生児スクリーニング メチルマロン酸血症 および 新生児スクリーニング プラズマメチルマロン酸格闘技 メチルマロン酸血症 および プラズマメチルマロン酸格闘技 血清有機酸類 メチルマロン酸血症 および 血清有機酸類 尿有機酸 メチルマロン酸血症 および 尿有機酸 アシルカルニチンのプロファイル type of acylcarnitine used to identify inborn errors of metabolism メチルマロン酸血症 および アシルカルニチンのプロファイル 動脈血ガス メチルマロン酸血症 および 動脈血ガス 尿素 メチルマロン酸血症 および 尿素 血、血小板数 Platelet Count メチルマロン酸血症 および 血、血小板数 脳MRI検査 メチルマロン酸血症 および 脳MRI検査 CTの脳 メチルマロン酸血症 および CTの脳 完全な血液カウント メチルマロン酸血症 および 完全な血液カウント 完全な代謝パネルを開きます メチルマロン酸血症 および 完全な代謝パネルを開きます プラズマアミノ酸 メチルマロン酸血症 および プラズマアミノ酸 血清クレアチニン メチルマロン酸血症 および 血清クレアチニン 血清乳酸 メチルマロン酸血症 および 血清乳酸 血清アンモニア メチルマロン酸血症 および 血清アンモニア 尿検査 Examination of urine to detect disease メチルマロン酸血症 および 尿検査 血清グルコース メチルマロン酸血症 および 血清グルコース C14はプロピオン酸トレーサー法 メチルマロン酸血症 および C14はプロピオン酸トレーサー法 コバラミン分布 メチルマロン酸血症 および コバラミン分布 相補性解析 メチルマロン酸血症 および 相補性解析 線維芽細胞のメチルマロニルCoAムターゼ3000 メチルマロン酸血症 および 線維芽細胞のメチルマロニルCoAムターゼ3000 ビタミンB12反応 メチルマロン酸血症 および ビタミンB12反応 血清ホモシステイン メチルマロン酸血症 および 血清ホモシステイン 血清ビタミンB - 12 メチルマロン酸血症 および 血清ビタミンB - 12 血漿尿酸 メチルマロン酸血症 および 血漿尿酸 CTスキャン メチルマロン酸血症 および CTスキャン 尿中メチルマロン酸 メチルマロン酸血症 および 尿中メチルマロン酸 尿クロマトグラフィー メチルマロン酸血症 および 尿クロマトグラフィー 生化学的研究のための培養皮膚線維芽細胞 メチルマロン酸血症 および 生化学的研究のための培養皮膚線維芽細胞 direct enzymatic assay in fibroblasts メチルマロン酸血症 および direct enzymatic assay in fibroblasts 血清電解質 メチルマロン酸血症 および 血清電解質 血清グリシン メチルマロン酸血症 および 血清グリシン 尿のpH メチルマロン酸血症 および 尿のpH 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 治療の手順を 'メチルマロン酸血症'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です methylmalonic acidemia: 治療の手順の検索結果 'メチルマロン酸血症' 1 - 5 of 7 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 肝移植 Replacing diseased liver by healthy one メチルマロン酸血症 および 肝移植 避けてください断食 メチルマロン酸血症 および 避けてください断食 胎児治療 メチルマロン酸血症 および 胎児治療 静脈のIVグルコース メチルマロン酸血症 および 静脈のIVグルコース 栄養カウンセリング メチルマロン酸血症 および 栄養カウンセリング 蛋白質の制限はありません メチルマロン酸血症 および 蛋白質の制限はありません 食事の変更 メチルマロン酸血症 および 食事の変更 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 薬の検索結果 'メチルマロン酸血症' 1 - 5 of 7 薬 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.   葉酸 メチルマロン酸血症 および 葉酸   L-carnitine メチルマロン酸血症 および L-carnitine   Betaine メチルマロン酸血症 および Betaine   Hydroxocobalamin メチルマロン酸血症 および Hydroxocobalamin   Metronidazole メチルマロン酸血症 および Metronidazole   Neomycin メチルマロン酸血症 および Neomycin   Levocarnitine メチルマロン酸血症 および Levocarnitine 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です ウェブ検索結果調査のための メチルマロン酸血症 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - メチルマロン酸血症 Methylmalonic acidemia Methylmalonic acidemia is an inherited metabolic disorder, usually diagnosed in ... Related Articles. Methylmalonic acidemia. Explore Health Topics A-Z. Must Reads ... http://adam.about.com/encyclopedia/001162sym.htm?terms=l+carnitine   adam.about.com - summary Methylmalonic acidemia - Genetics Home Reference Methylmalonic acidemia is an inherited disorder in which the body is unable to ... Mutations in the MMAA, MMAB, and MUT genes cause methylmalonic acidemia. ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia   ghr.nlm.nih.gov - summary Methylmalonic Acidemia -- GeneReviews -- NCBI Bookshelf Clinical diagnosis of methylmalonic acidemia relies upon specialized metabolic testing. ... Methylmalonic acidemia is inherited in an autosomal recessive manner. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mma   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - References - Genetics Home Reference Gene Review: Methylmalonic Acidemia ... Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005 May;85(1):2-6. Review. ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/References   ghr.nlm.nih.gov - summary Methylmalonic Acidemia The phenotypic variants of methylmalonic acidemia share clinical ... Methylmalonic acidemia is inherited in an autosomal recessive manner. ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - Educational resources - Information pages ... ... in the Genetics Home Reference condition summary on methylmalonic acidemia. Ask the Geneticist: Course of methylmalonic aciduria ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/...   ghr.nlm.nih.gov - summary Methylmalonic Acidemia -- GeneReviews -- NCBI Bookshelf Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Methylmalonic Acidemia ... The biotin-dependent enzyme propionyl-CoA carboxylase ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - OMIM - Genetic disorder catalog - Genetics ... Genetic Conditions > methylmalonic acidemia > OMIM - Genetic disorder catalog ... in the Genetics Home Reference condition summary on methylmalonic acidemia. ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/OMIM   ghr.nlm.nih.gov - summary Methylmalonic Acidemia -- GeneReviews -- NCBI Bookshelf ... This book All books PubMed. Bookshelf " GeneReviews " Methylmalonic Acidemia ... The class and genes associated with isolated methylmalonic acidemia are: cblH, ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - Patient support - For patients and families ... Genetic Conditions > methylmalonic acidemia > Patient support - For patients ... in the Genetics Home Reference condition summary on methylmalonic acidemia. ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/Patient+support   ghr.nlm.nih.gov - summary Renal transplant in methylmalonic acidemia: could it be the best option ... Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism. ... transplant, renal function is normal; although urinary levels of methylmalonic ... http://www.ncbi.nlm.nih.gov/pubmed/17401587   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - Related Gene(s) - Genetics Home Reference Genetic Conditions > methylmalonic acidemia > Related Gene(s) MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type ... Lister Hill National Center for ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/Related+Gene(s)   ghr.nlm.nih.gov - summary The natural history of the inherited methylmalonic acidemias. ... and genetic forms of methylmalonic acidemia have been defined previously: two ... classification of the methylmalonic acidemias has prognostic and therapeutic ... http://www.ncbi.nlm.nih.gov/pubmed/6132336   www.ncbi.nlm.nih.gov - summary Mutations in mut methylmalonic acidemia: clinical and enzymatic ... Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. ... Mut methylmalonic acidemia is caused by mutations in the MUT locus encoding the ... http://www.ncbi.nlm.nih.gov/pubmed/8990001   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia - Gene Reviews - Clinical summary - Genetics ... ... in the Genetics Home Reference condition summary on methylmalonic acidemia. Gene Review: Methylmalonic Acidemia. Gene Review: Organic Acidemias Overview ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/Gene+Reviews   ghr.nlm.nih.gov - summary Methylmalonic acidemia - MedlinePlus - Health information - Genetics ... ... in the Genetics Home Reference condition summary on methylmalonic acidemia. Encyclopedia: Methylmalonic acid. Encyclopedia: Methylmalonic acidemia ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/MedlinePlus   ghr.nlm.nih.gov - summary Acidemia, Methylmalonic - Yahoo! Health Important It is possible that the main title of the report Acidemia, Methylmalonic is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/blood-resources/acidemia-methylmalon...   health.yahoo.com - summary MedlinePlus Medical Encyclopedia: Methylmalonic acidemia Methylmalonic acidemia is a disorder, passed down through families, ... Testing for methylmalonic acidemia is often done as part of a newborn screening exam. ... http://www.nlm.nih.gov/medlineplus/ency/article/001162.htm   www.nlm.nih.gov - summary Methylmalonic acidemia - ACTion Sheets - Newborn screening follow up ... Genetic Conditions > methylmalonic acidemia > ACTion Sheets - Newborn screening ... in the Genetics Home Reference condition summary on methylmalonic acidemia. ... http://ghr.nlm.nih.gov/condition=methylmalonicacidemia/show/ACTion+Sheets   ghr.nlm.nih.gov - summary Organic acidemia - Wikipedia, the free encyclopedia Organic acidemia, also called organic aciduria, is a term used to classify a ... Propionic acidemia - Methylmalonic acidemia. Gfumarate. Phenylalanine/tyrosine ... http://en.wikipedia.org/wiki/Organic_acidemia   en.wikipedia.org - summary Genetic analysis of three genes causing isolated methylmalonic acidemia ... ... three genes causing isolated methylmalonic acidemia: identification of 21 novel ... Isolated methylmalonic aciduria (MMA) is an inborn error of metabolism due to ... http://www.ncbi.nlm.nih.gov/pubmed/15781192   www.ncbi.nlm.nih.gov - summary Methylmalonic acidemia Methylmalonic acidemia is a disorder, passed down through families, in which the ... Testing for methylmalonic acidemia is often done as part of a newborn ... http://adam.about.com/encyclopedia/infectiousdiseases/Methylmalonic-acidemia.htm   adam.about.com - summary Amino Acid and Organic Acid Metabolism Disorders: Inherited Disorders ... Methylmalonic acidemia: This disorder is caused by deficiency of methylmalonyl ... deficiency also may cause methylmalonic acidemia (and also homocystinuria and ... http://www.merck.com/mmpe/sec19/ch296/ch296c.html   www.merck.com - summary Propionic and Methylmalonic Acidemia: Antisense Therapeutics for ... Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic ... defects identified in methylmalonic acidemia (MMA) and propionic acidemia (PA) ... http://www.ncbi.nlm.nih.gov/pubmed/17966092   www.ncbi.nlm.nih.gov - summary Propionic acidemia - Wikipedia, the free encyclopedia Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med Genet. ... Propionic acidemia - Methylmalonic acidemia. Gfumarate. Phenylalanine/tyrosine ... http://en.wikipedia.org/wiki/Propionic_acidemia   en.wikipedia.org - summary Adam Methylmalonic acidemia. Multiple myeloma. Osteomalacia. More ... Methylmalonic acidemia. Multiple myeloma. Ornithine transcarbamylase deficiency. Osteomalacia ... http://stvhs.adam.com/content.aspx?productId=101&pid=1&gid=003366   stvhs.adam.com - summary PROPIONIC ACIDEMIA - Pedbase.org Propionic Acidemia can arise from mutations in either the alpha or beta subunit ... propionic acidemia,methylmalonic acidemia, isovaleric acidemia, and beta ... http://pedbase.org/p/propionic-acidemia   pedbase.org - summary Talk:Methylmalonic acidemia - Wikipedia, the free encyclopedia Talk:Methylmalonic acidemia. From Wikipedia, the free encyclopedia. Jump ... I don't think that Methylmalonic acidemia is a disorder affecting branched-chain ... http://en.wikipedia.org/wiki/Talk:Methylmalonic_acidemia   en.wikipedia.org - summary D-Glyceric acidemia - Wikipedia, the free encyclopedia Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency. G ... Propionic acidemia - Methylmalonic acidemia. Gfumarate. Phenylalanine/tyrosine ... http://en.wikipedia.org/wiki/D-Glyceric_acidemia   en.wikipedia.org - summary Health Topics aa to ae Browse through our health search terms by viewing the top 300 or the entire health a-z. ... Acidemia, Isovaleric. Acidemia, Methylmalonic. Acidemia, Propionic ... http://www.webmd.com/a-to-z-guides/health-topics/default.htm   www.webmd.com - summary Glutaric acidemia type 2 - Wikipedia, the free encyclopedia Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is ... Propionic acidemia - Methylmalonic acidemia. Gfumarate. Phenylalanine/tyrosine ... http://en.wikipedia.org/wiki/Glutaric_acidemia_type_2   en.wikipedia.org - summary MedlinePlus: Metabolic Disorders Methylmalonic Acid(American Association for Clinical Chemistry) ... Genetics Home Reference: Methylmalonic acidemia(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html   www.nlm.nih.gov - summary MMAA - methylmalonic aciduria (cobalamin deficiency) cblA type ... methylmalonic acidemia - caused by mutations in the MMAA gene ... leads to the serious medical problems associated with methylmalonic acidemia. ... http://ghr.nlm.nih.gov/gene=mmaa   ghr.nlm.nih.gov - summary The Organic Acidemias: An Overview -- GeneReviews -- NCBI Bookshelf Methylmalonic acidemia is associated with an increased frequency of renal ... Methylmalonic acid in blood and urine Total homocysteine in plasma. Isovaleric acidemia ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oa-overview   www.ncbi.nlm.nih.gov - summary Isovaleric acidemia - Wikipedia, the free encyclopedia Isovaleric acidemia, also called isovaleric aciduria or isovaleric acid CoA ... Propionic acidemia - Methylmalonic acidemia. Gfumarate. Phenylalanine/tyrosine ... http://en.wikipedia.org/wiki/Isovaleric_acidemia   en.wikipedia.org - summary The Organic Acidemias: An Overview (MMA), methylmalonic aciduria and homocystinuria, ... methylmalonic ... Methylmalonic acidemia is associated with an increased frequency of renal ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Novel mutations found in two genes of thai patients with isolated ... Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. ... with isolated methylmalonic acidemia (MMA) revealed that ... http://www.ncbi.nlm.nih.gov/pubmed/17410422   www.ncbi.nlm.nih.gov - summary MMAB - methylmalonic aciduria (cobalamin deficiency) cblB type ... methylmalonic acidemia - caused by mutations in the MMAB gene ... CoA mutase, resulting in the signs and symptoms of methylmalonic acidemia. ... http://ghr.nlm.nih.gov/gene=mmab   ghr.nlm.nih.gov - summary Clustering of mutations in methylmalonyl CoA mutase associated with mut ... Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. ... Methylmalonic Acid. Vitamin B 12. Methylmalonyl-CoA Mutase ... http://www.ncbi.nlm.nih.gov/pubmed/7912889   www.ncbi.nlm.nih.gov - summary Biochemical and clinical response to hydroxocobalamin versus ... ... in patients with combined methylmalonic acidemia and homocystinuria. ... significant decrease in urine methylmalonic acid excretion while receiving ... http://www.ncbi.nlm.nih.gov/pubmed/9470012   www.ncbi.nlm.nih.gov - summary HYPERAMMONEMIA - Pedbase.org A heterogeneous group of disorders characterized by ... Methylmalonic Acidemia. Propionic Acidemia. Isovaleric Acidemia. 2. Fatty Acid Oxidation Defects ... http://pedbase.org/h/hyperammonemia/   pedbase.org - summary Metabolic Acidosis: Acid-Base Regulation and Disorders: Merck Manual ... Acidemia (arterial pH < 7.35) results when acid load overwhelms ... is also a rare manifestation of congenital isovaleric and methylmalonic acidemia. ... https://www.merck.com/mmpe/print/sec12/ch157/ch157c.html   /www.merck.com - summary MUT - References - Genetics Home Reference ... and mut- forms of methylmalonic acidemia: identification of 29 novel ... Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab. ... http://ghr.nlm.nih.gov/gene=mut/show/References   ghr.nlm.nih.gov - summary Mutation and haplotype analyses of the MUT gene in Japanese patients ... ... analyses of the MUT gene in Japanese patients with methylmalonic acidemia. ... Methylmalonic acidemia (MMA) is caused by a deficiency in the activity of L: ... http://www.ncbi.nlm.nih.gov/pubmed/17075691   www.ncbi.nlm.nih.gov - summary Hypotonia Infants with hypotonia seem floppy and feel like a "rag doll" does when held. ... Methylmalonic acidemia. Muscular dystrophy. Myasthenia gravis ... http://adam.about.com/encyclopedia/Hypotonia.htm?terms=22q13   adam.about.com - summary MedlinePlus Medical Encyclopedia: Hypotonia Describes the condition and lists ... When to Contact a Medical Professional. What to Expect at Your Office ... Methylmalonic acidemia. Muscular dystrophy ... http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm   www.nlm.nih.gov - summary Organic Acid Metabolism The increased knowledge of the molecular basis of neurobiology will ultimately lead to an understanding of the coding of ... acidemia and methylmalonic ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.3115#3116   www.ncbi.nlm.nih.gov - summary MUT - methylmalonyl Coenzyme A mutase - Genetics Home Reference methylmalonic acidemia - caused by mutations in the MUT gene ... organs and tissues, causing the signs and symptoms of methylmalonic acidemia. ... http://ghr.nlm.nih.gov/gene=mut   ghr.nlm.nih.gov - summary Methylmalonic acid - Wikipedia, the free encyclopedia Methylmalonic acid (MMA) is a dicarboxylic acid that is a C-methylated derivative of malonate. ... An excess is associated with methylmalonic acidemia. ... http://en.wikipedia.org/wiki/Methylmalonic_acid   en.wikipedia.org - summary Disorders of Intracellular Cobalamin Metabolism -- GeneReviews -- NCBI ... Certain subtypes of methylmalonic acidemia may be further defined by complementation analysis. ... Methylmalonic acidemia. ... "Benign" methylmalonic acidemia. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cbl   www.ncbi.nlm.nih.gov - summary もっと表示 1  2