Difference between revisions of "Isobutyryl-coenzyme A dehydrogenase deficiency"

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'''Isobutyryl-coenzyme A dehydrogenase deficiency''', commonly known as '''IBD deficiency''', is a rare [[genetic disorder]] in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid [[valine]].
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{{Infobox_Disease
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| Name          = {{PAGENAME}}
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| Image          = L-valine-skeletal.svg
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| Caption        = [[Valine]]
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| DiseasesDB    = 34225
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| ICD10          =
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| ICD9          =
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| ICDO          =
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| OMIM          = 604773
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| MedlinePlus    =
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| eMedicineSubj  =
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| eMedicineTopic =
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| MeshID        =
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}}
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{{SI}}
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{{EH}}
  
Babies with this deficiency will likely be healthy at birth. The signs and symptoms of this disorder may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart ([[dilated cardiomyopathy]]), seizures, and low numbers of red blood cells ([[anemia]]). Another feature of this disorder may be very low blood levels of [[carnitine]] (a natural substance that helps convert certain foods into energy). Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.  
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'''Isobutyryl-coenzyme A dehydrogenase deficiency''', commonly known as '''IBD deficiency''', is a rare [[metabolic disorder]] in which the body is unable to process certain [[amino acid]]s properly.  
  
Mutations in the ''ACAD8'' gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The ''ACAD8'' gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.
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People with this disorder have inadequate levels of an enzyme that helps break down the amino acid [[valine]], resulting in a build up of valine in the urine, a symptom called [[valinuria]].
  
This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
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==Diagnosis==
  
==Reference==
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Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart ([[dilated cardiomyopathy]]), seizures, and low numbers of red blood cells ([[anemia]]). Another feature of this disorder may be very low blood levels of [[carnitine]] (a natural substance that helps convert certain foods into energy).
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Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.
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==Genetics==
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[[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of inheritance.]]
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Defects in the ''[[ACAD8]]'' gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The ''ACAD8'' gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.
 +
 
 +
This disorder is inherited in an [[autosomal recessive]] pattern, which means the defective gene is located on an [[autosome]], and two copies of the gene - one from each parent - are needed to be born with the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder.
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==See also==
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* [[Isobutyryl-coenzyme A]]
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==External links==
 
* {{NLM|isobutyrylcoenzymeadehydrogenasedeficiency}}
 
* {{NLM|isobutyrylcoenzymeadehydrogenasedeficiency}}
  
[[Category:inborn errors of metabolism]]
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{{Amino acid metabolic pathology}}
[[Category:genetic disorders]]
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{{SIB}}
{{WikiDoc Sources}}
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[[Category:Autosomal recessive disorders]]
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[[Category:Inborn errors of metabolism]]
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[[Category:Genetic disorders]]
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{{WH}}
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{{WS}}

Revision as of 00:16, 11 November 2008

Isobutyryl-coenzyme A dehydrogenase deficiency
L-valine-skeletal.svg
Valine
OMIM 604773
DiseasesDB 34225

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Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly.

People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a build up of valine in the urine, a symptom called valinuria.

Diagnosis

Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy).

Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.

Genetics

Isobutyryl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

Defects in the ACAD8 gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.

This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are needed to be born with the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder.

See also

External links

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| group5 = Clinical Trials Involving Isobutyryl-coenzyme A dehydrogenase deficiency | list5 = Ongoing Trials on Isobutyryl-coenzyme A dehydrogenase deficiency at Clinical Trials.govTrial results on Isobutyryl-coenzyme A dehydrogenase deficiencyClinical Trials on Isobutyryl-coenzyme A dehydrogenase deficiency at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Isobutyryl-coenzyme A dehydrogenase deficiency | list6 = US National Guidelines Clearinghouse on Isobutyryl-coenzyme A dehydrogenase deficiencyNICE Guidance on Isobutyryl-coenzyme A dehydrogenase deficiencyNHS PRODIGY GuidanceFDA on Isobutyryl-coenzyme A dehydrogenase deficiencyCDC on Isobutyryl-coenzyme A dehydrogenase deficiency


| group7 = Textbook Information on Isobutyryl-coenzyme A dehydrogenase deficiency | list7 = Books and Textbook Information on Isobutyryl-coenzyme A dehydrogenase deficiency


| group8 = Pharmacology Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list8 = AND (Dose)}} Dosing of Isobutyryl-coenzyme A dehydrogenase deficiencyAND (drug interactions)}} Drug interactions with Isobutyryl-coenzyme A dehydrogenase deficiencyAND (side effects)}} Side effects of Isobutyryl-coenzyme A dehydrogenase deficiencyAND (Allergy)}} Allergic reactions to Isobutyryl-coenzyme A dehydrogenase deficiencyAND (overdose)}} Overdose information on Isobutyryl-coenzyme A dehydrogenase deficiencyAND (carcinogenicity)}} Carcinogenicity information on Isobutyryl-coenzyme A dehydrogenase deficiencyAND (pregnancy)}} Isobutyryl-coenzyme A dehydrogenase deficiency in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Isobutyryl-coenzyme A dehydrogenase deficiency


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Isobutyryl-coenzyme A dehydrogenase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Isobutyryl-coenzyme A dehydrogenase deficiencyAND (pharmacogenomics)}} Pharmacogenomics of Isobutyryl-coenzyme A dehydrogenase deficiencyAND (proteomics)}} Proteomics of Isobutyryl-coenzyme A dehydrogenase deficiency


| group10 = Newstories on Isobutyryl-coenzyme A dehydrogenase deficiency | list10 = Isobutyryl-coenzyme A dehydrogenase deficiency in the newsBe alerted to news on Isobutyryl-coenzyme A dehydrogenase deficiencyNews trends on Isobutyryl-coenzyme A dehydrogenase deficiency


| group11 = Commentary on Isobutyryl-coenzyme A dehydrogenase deficiency | list11 = Blogs on Isobutyryl-coenzyme A dehydrogenase deficiency

| group12 = Patient Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list12 = Patient resources on Isobutyryl-coenzyme A dehydrogenase deficiencyDiscussion groups on Isobutyryl-coenzyme A dehydrogenase deficiencyPatient Handouts on Isobutyryl-coenzyme A dehydrogenase deficiencyDirections to Hospitals Treating Isobutyryl-coenzyme A dehydrogenase deficiencyRisk calculators and risk factors for Isobutyryl-coenzyme A dehydrogenase deficiency


| group13 = Healthcare Provider Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list13 = Symptoms of Isobutyryl-coenzyme A dehydrogenase deficiencyCauses & Risk Factors for Isobutyryl-coenzyme A dehydrogenase deficiencyDiagnostic studies for Isobutyryl-coenzyme A dehydrogenase deficiencyTreatment of Isobutyryl-coenzyme A dehydrogenase deficiency

| group14 = Continuing Medical Education (CME) Programs on Isobutyryl-coenzyme A dehydrogenase deficiency | list14 = CME Programs on Isobutyryl-coenzyme A dehydrogenase deficiency

| group15 = International Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list15 = Isobutyryl-coenzyme A dehydrogenase deficiency en EspanolIsobutyryl-coenzyme A dehydrogenase deficiency en Francais

| group16 = Business Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list16 = Isobutyryl-coenzyme A dehydrogenase deficiency in the MarketplacePatents on Isobutyryl-coenzyme A dehydrogenase deficiency

| group17 = Informatics Resources on Isobutyryl-coenzyme A dehydrogenase deficiency | list17 = List of terms related to Isobutyryl-coenzyme A dehydrogenase deficiency


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