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3-ketothiolase deficiency
Definition for 3-ketothiolase deficiency
some common symptoms
some related diagnoses
do i have '3-ketothiolase deficiency'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for '3-ketothiolase deficiency'
1 - 4 of
4
diagnostic tests
Serum Organic Acids
3-ketothiolase deficiency and Serum Organic Acids
Urine chromatography
3-ketothiolase deficiency and Urine chromatography
urine Organic Acids
3-ketothiolase deficiency and urine Organic Acids
urine pH
3-ketothiolase deficiency and urine pH
therapeutic procedures for '3-ketothiolase deficiency'?
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 3-ketothiolase deficiency:
therapeutic procedure search results for '3-ketothiolase deficiency'
rankings are computer generated. please consult your health care provider.
medications search results for '3-ketothiolase deficiency'
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web search results for 3-ketothiolase deficiency
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1 - 50
- alpha- methylacetoacetic aciduria
3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia, the ...
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
en.wikipedia.org
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summary
ACAT1 - NextBio
Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine ... gene are associated with 3-ketothiolase deficiency, an inborn error of ...
http://www.nextbio.com/b/search/ov/ACAT1?type=feature&id=149
www.nextbio.com
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summary
Newborn screening tests: MedlinePlus Medical Encyclopedia
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human immunodeficiency ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Beta ketothiolase ...
http://www.nlm.nih.gov/medlineplus/ency/article/007257.htm
www.nlm.nih.gov
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summary
3-hydroxy-3-methylglutaryl-CoA lyase deficiency - Wikipedia ...
3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl-CoA_lyase_deficiency
en.wikipedia.org
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Newborn Screening: MedlinePlus
Genetics Home Reference: 3-methylcrotonyl-coenzyme A carboxylase deficiency(National Library of Medicine) ... Home Reference: Beta-ketothiolase deficiency(National Library of ...
http://www.nlm.nih.gov/medlineplus/newbornscreening.html
www.nlm.nih.gov
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summary
Beta-ketothiolase deficiency - Wikipedia, the free encyclopedia
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder ... Beta-ketothiolase deficiency has an autosomal recessive pattern of inheritance. ...
http://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency
en.wikipedia.org
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summary
Levocarnitine IV : Uses, Side Effects, Interactions, Pictures ...
Carnitine Deficiency. Levocarnitine IV may also be used to treat: ... Ketothiolase Deficiency, High Amounts of Glutaric Acid in the Body- Type I, 3 ...
http://www.webmd.com/drugs/drug-20741-Levocarnitine+Intraven...
www.webmd.com
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summary
Fumarase deficiency - Wikipedia, the free encyclopedia
Fumarase deficiency is caused by a mutation in the fumarate hydratase ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Fumarase_deficiency
en.wikipedia.org
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summary
Carnitor Oral : Uses, Side Effects, Interactions, Pictures ...
Carnitine Deficiency. Carnitor Oral may also be used to treat: ... Ketothiolase Deficiency, High Amounts of Glutaric Acid in the Body- Type I, 3 ...
http://www.webmd.com/drugs/drug-4488-Carnitor+Oral.aspx?drug...
www.webmd.com
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summary
Ornithine transcarbamylase deficiency - Wikipedia, the free ...
Mutations in the OTC gene cause ornithine transcarbamylase deficiency. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency
en.wikipedia.org
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summary
Succinic semialdehyde dehydrogenase deficiency - Wikipedia ...
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4 ... as well.[3] SSADH deficiency is caused by an enzyme deficiency in GABA degradation. ...
http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency
en.wikipedia.org
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summary
Tetrahydrobiopterin deficiency - Wikipedia, the free encyclopedia
Tetrahydrobiopterin deficiency also disrupts the levels of certain ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency
en.wikipedia.org
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summary
Carbamoyl phosphate synthetase I deficiency - Wikipedia, the ...
Carbamoyl phosphate synthetase I deficiency is an inherited disorder ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency
en.wikipedia.org
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summary
Glutathione synthetase deficiency - Wikipedia, the free ...
Glutathione synthetase deficiency can be classified into three types: ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Glutathione_synthetase_deficiency
en.wikipedia.org
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summary
Ornithine translocase deficiency - Wikipedia, the free ...
Mutations in the SLC25A15 gene cause ornithine translocase deficiency. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency
en.wikipedia.org
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summary
2-Methylbutyryl-CoA dehydrogenase deficiency - Wikipedia, the ...
"2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by ... N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency ...
http://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency
en.wikipedia.org
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summary
Dopamine beta hydroxylase deficiency - Wikipedia, the free ...
A deficiency of norepinephrine and epinephrine that causes orthostatic ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Dopamine_beta_hydroxylase_deficiency
en.wikipedia.org
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Wyeth.com | ADAM
Wyeth pharmaceutical company brings health care products, medicines and vaccines that aim to improve lives and deliver value to customers.
http://wyeth.adam.com/content.aspx?productId=101&pid=1&gid=007257
wyeth.adam.com
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summary
Guanidinoacetate methyltransferase deficiency - Wikipedia ...
Guanidinoacetate methyltransferase deficiency is a very rare disorder. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency
en.wikipedia.org
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summary
N-Acetylglutamate synthase deficiency - Wikipedia, the free ...
Deficiency in N-Acetyl Glutamate Synthase or a genetic mutation in ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/N-Acetylglutamate_synthase_deficiency
en.wikipedia.org
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summary
Newborn screening tests
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human immunodeficiency ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Beta ketothiolase ...
http://adam.about.com/encyclopedia/Newborn-screening-tests.htm
adam.about.com
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summary
3-Ketothiolase deficiency(Deficiency of acetyl-CoA ...
Search Term: 3-Ketothiolase deficiency (disease: Deficiency of acetyl-CoA ... No NextBio groups were found for "3-Ketothiolase deficiency". Be the first to start a ...
http://www.nextbio.com/b/search/ov/3-Ketothiolase%20deficiency?type=DISEASE
www.nextbio.com
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summary
Prolidase deficiency - Wikipedia, the free encyclopedia
Prolidase deficiency is a rare autosomal recessive[1] inborn error of metabolism.[2][3]:541 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Prolidase_deficiency
en.wikipedia.org
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summary
Isobutyryl-coenzyme A dehydrogenase deficiency - Wikipedia ...
Isobutyryl-CoA dehydrogenase deficiency may be worsened by long ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Isobutyryl-coenzyme_A_dehydrogenase_deficiency
en.wikipedia.org
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summary
3-ketothiolase deficiency(Deficiency of acetyl-CoA ...
Search Term: 3-ketothiolase deficiency (disease: Deficiency of acetyl-CoA ... No NextBio groups were found for "3-ketothiolase deficiency". Be the first to start a ...
http://www.nextbio.com/b/search/ov/3-ketothiolase%20deficiency
www.nextbio.com
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summary
PROPIONIC ACIDEMIA - Pedbase.org
... acidemia, isovaleric acidemia, and beta-ketothiolase deficiency ... deficiency on assay. 2. Education. diagnosis, definition, epidemiology, treatment options, prognosis. 3. Goals ...
http://www.pedbase.org/p/propionic-acidemia/
www.pedbase.org
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summary
6-Pyruvoyltetrahydropterin synthase deficiency - Wikipedia ...
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency
en.wikipedia.org
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summary
Acetyl L-Carnitine Oral : User Ratings covering uses ...
Find user ratings and reviews for Acetyl L-Carnitine Oral on - WebMD including side effects and drug interactions, medication effectiveness, ease of use and satisfaction
http://www.webmd.com/drugs/drugreview-91508-Acetyl+L-Carniti...
www.webmd.com
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Author - NextBio
Deficiency of beta-ketothiolase (beta-KT, also known as T2, mitocho... 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that ...
http://www.nextbio.com/b/search/author/Stanley%20H%20Korman
www.nextbio.com
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summary
Files Previously Added, Updated, or Revised
New Topic on Genetics Home Reference: Beta-ketothiolase deficiency (05/23/05) ... long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (03/01 ...
http://www.nlm.nih.gov/news/new_files2005.html
www.nlm.nih.gov
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summary
Glutaric aciduria type 1 - Wikipedia, the free encyclopedia
This enzyme deficiency allows glutaric acid, 3-hydroxyglutaric acid ... Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Glutaric_acidemia_type_1
en.wikipedia.org
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Carnitor IV : User Ratings covering uses, effectiveness ...
Find user ratings and reviews for Carnitor IV on - WebMD including side effects and drug interactions, medication effectiveness, ease of use and satisfaction
http://www.webmd.com/drugs/drugreview-4487-Carnitor+IV.aspx?...
www.webmd.com
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summary
Argininemia - Wikipedia, the free encyclopedia
The accumulation of guanidino metabolites also contribute to the neurotoxicity of the disease.[3] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Argininemia
en.wikipedia.org
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Homocystinuria - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Homocystinuria
en.wikipedia.org
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Ochronosis - Wikipedia, the free encyclopedia
The face, skeletal system, cardiovascular system,[3] respiratory system, urinary system and to a lesser ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Ochronosis
en.wikipedia.org
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Cystinosis - Wikipedia, the free encyclopedia
Symptoms are first seen at about 3 to 18 months of age with profound polyuria ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Cystinosis
en.wikipedia.org
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D-Glyceric acidemia - Wikipedia, the free encyclopedia
A short Wikipedia article on NKH. ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/D-Glyceric_acidemia
en.wikipedia.org
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Methylmalonic acidemia - Wikipedia, the free encyclopedia
Methylmalonic acidemia stems from several genotypes,[3] all forms of the disorder usually diagnosed in the ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Methylmalonic_acidemia
en.wikipedia.org
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Inside:
1?3 ). However, using MS/MS in newborn screening programs is new, and scientific data ... cate both MCAD deficiency and multiple acyl-CoA dehydrogenase deficiency) ...
http://www.cdc.gov/mmwr/PDF/rr/rr5003.pdf
www.cdc.gov
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Cystinuria - Wikipedia, the free encyclopedia
Alkalinization of urine can help reduce stone formation.[3][4] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Cystinuria
en.wikipedia.org
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Hartnup disease - Wikipedia, the free encyclopedia
Most symptoms occur sporadically and are caused by a deficiency of niacinamide. ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Hartnup_disease
en.wikipedia.org
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Inborn error of metabolism - Wikipedia, the free encyclopedia
PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
en.wikipedia.org
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Maple syrup urine disease - Wikipedia, the free encyclopedia
MSUD is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
en.wikipedia.org
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Newborn screening - Wikipedia, the free encyclopedia
G6PD Deficiency - is an X-linked recessive hereditary disease characterized by abnormally ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000 ...
http://en.wikipedia.org/wiki/Newborn_screening
en.wikipedia.org
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Phenylketonuria - Wikipedia, the free encyclopedia
PAH deficiency causes a spectrum of disorders including classic ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Phenylketonuria
en.wikipedia.org
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Propionic acidemia - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Propionic_acidemia
en.wikipedia.org
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Waardenburg syndrome - Wikipedia, the free encyclopedia
Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome.[3] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Waardenburg_syndrome
en.wikipedia.org
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Albinism - Wikipedia, the free encyclopedia
Hyperlinked article discussing genetics, culture, visual problems, pigmentation, and albinism in non-humans.
http://en.wikipedia.org/wiki/Albinism
en.wikipedia.org
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Hypermethioninemia - Wikipedia, the free encyclopedia
A deficiency of any of these enzymes results in a buildup of methionine in the ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Hypermethioninemia
en.wikipedia.org
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Isovaleric acidemia - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Isovaleric_acidemia
en.wikipedia.org
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