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what is '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.
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
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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
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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
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web search results for 'methylmalonic acidemia'?
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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quick facts
category
genetic or congenital
metabolic
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rare (U.S.)
Usually seen in children.
likelihood by age
likelyhood by duration of symptoms
some common symptoms
abnormal gait
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vision problems
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Down's Syndrome
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