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methylmalonic acidemia - type of inhereted metabolic disorder Definition for methylmalonic acidemia 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. some common symptoms abnormal gait anemia vision problems weakness some related diagnoses 1 - 7 of 88 diagnoses Hartnup disease hereditary ataxias, adult type Friedreich's ataxia drugs and toxins intracranial tumor human immunodeficiency virus infections patent foramen ovale   more do i have 'methylmalonic acidemia'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'methylmalonic acidemia' 1 - 5 of 35 diagnostic tests Amniocentesis methylmalonic acidemia and Amniocentesis Newborn Screening methylmalonic acidemia and Newborn Screening Plasma methylmalonic acid (MMA) methylmalonic acidemia and Plasma methylmalonic acid (MMA) Serum Organic Acids methylmalonic acidemia and Serum Organic Acids urine Organic Acids methylmalonic acidemia and urine Organic Acids Acylcarnitine profile type of acylcarnitine used to identify inborn errors of metabolism methylmalonic acidemia and Acylcarnitine profile Arterial Blood Gas methylmalonic acidemia and Arterial Blood Gas BUN methylmalonic acidemia and BUN Blood, Platelet Count Platelet Count methylmalonic acidemia and Blood, Platelet Count Brain MRI methylmalonic acidemia and Brain MRI CT brain methylmalonic acidemia and CT brain Complete Blood Count methylmalonic acidemia and Complete Blood Count Complete metabolic panel methylmalonic acidemia and Complete metabolic panel Plasma amino acids methylmalonic acidemia and Plasma amino acids Serum Creatinine methylmalonic acidemia and Serum Creatinine Serum Lactate methylmalonic acidemia and Serum Lactate Serum ammonia methylmalonic acidemia and Serum ammonia Urinalysis Examination of urine to detect disease methylmalonic acidemia and Urinalysis serum glucose methylmalonic acidemia and serum glucose C14 propionate tracer assay methylmalonic acidemia and C14 propionate tracer assay Cobalamin distribution methylmalonic acidemia and Cobalamin distribution Complementation analysis methylmalonic acidemia and Complementation analysis Methylmalonyl-CoA mutase (MMM) in fibroblasts methylmalonic acidemia and Methylmalonyl-CoA mutase (MMM) in fibroblasts Vitamin B12 responsiveness methylmalonic acidemia and Vitamin B12 responsiveness Serum Homocysteine methylmalonic acidemia and Serum Homocysteine Serum vitamin B-12 methylmalonic acidemia and Serum vitamin B-12 Plasma uric acid methylmalonic acidemia and Plasma uric acid CT scan methylmalonic acidemia and CT scan Urinary methylmalonic acid methylmalonic acidemia and Urinary methylmalonic acid Urine chromatography methylmalonic acidemia and Urine chromatography cultured skin fibroblasts for biochemical study methylmalonic acidemia and cultured skin fibroblasts for biochemical study direct enzymatic assay in fibroblasts methylmalonic acidemia and direct enzymatic assay in fibroblasts serum electrolytes methylmalonic acidemia and serum electrolytes serum glycine methylmalonic acidemia and serum glycine urine pH methylmalonic acidemia and urine pH for more please login, login is free (click to login) therapeutic procedures for 'methylmalonic acidemia'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for methylmalonic acidemia: therapeutic procedure search results for 'methylmalonic acidemia' 1 - 5 of 7 therapeutic procedures rankings are computer generated. please consult your health care provider. Liver Transplant Replacing diseased liver by healthy one methylmalonic acidemia and Liver Transplant Avoid fasting methylmalonic acidemia and Avoid fasting Fetal therapy methylmalonic acidemia and Fetal therapy Intravenous (IV) glucose methylmalonic acidemia and Intravenous (IV) glucose Nutritional counseling methylmalonic acidemia and Nutritional counseling Protein restriction methylmalonic acidemia and Protein restriction diet modification methylmalonic acidemia and diet modification for more please login, login is free (click to login) medications search results for 'methylmalonic acidemia' 1 - 5 of 7 medications rankings are computer generated. please consult your health care provider.   Folate methylmalonic acidemia and Folate   L-carnitine methylmalonic acidemia and L-carnitine   Betaine methylmalonic acidemia and Betaine   Hydroxocobalamin methylmalonic acidemia and Hydroxocobalamin   Metronidazole methylmalonic acidemia and Metronidazole   Neomycin methylmalonic acidemia and Neomycin   Levocarnitine methylmalonic acidemia and Levocarnitine for more please login, login is free (click to login) web search results for methylmalonic acidemia Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - methylmalonic acidemia 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 show more 1  2