Diseases » 3-methylcrotonyl-CoA carboxylase deficiency » Introduction

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency: Introduction

3-methylcrotonyl-CoA carboxylase deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. More detailed information about the symptoms, causes, and treatments of 3-methylcrotonyl-CoA carboxylase deficiency is available below.

Symptoms of 3-methylcrotonyl-CoA carboxylase deficiency

• Feeding difficulties
• Recurring episodes of vomiting
• Recurring episodes of diarrhea
• Lethargy
• Poor muscle tone
• more symptoms...»

See full list of 6 symptoms of 3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency: Complications

Review possible medical complications related to 3-methylcrotonyl-CoA carboxylase deficiency:

• Developmental delay if untreated
• Seizures if untreated
• Coma if untreated (see Coma)
• more complications...»

Disease Topics Related To 3-methylcrotonyl-CoA carboxylase deficiency

Research the causes of these diseases that are similar to, or related to, 3-methylcrotonyl-CoA carboxylase deficiency:

• Inherited disorder
• Diarrhoea
• Lethargy
• Hypotonia
• Reye syndrome
• more related diseases...»

Wrongly Diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency?

• Misdiagnosis of 3-methylcrotonyl-CoA carboxylase deficiency
• Failure to diagnose 3-methylcrotonyl-CoA carboxylase deficiency
• Undiagnosed: 3-methylcrotonyl-CoA carboxylase deficiency

Misdiagnosis and 3-methylcrotonyl-CoA carboxylase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of Vitamin B12 deficiency or misdiagnosis of multiple sclerosis....read more »

Read more about Misdiagnosis and 3-methylcrotonyl-CoA carboxylase deficiency

Treatments for 3-methylcrotonyl-CoA carboxylase deficiency

• Low-protein diet and supplements
• more treatments...»

Read more about treatments for 3-methylcrotonyl-CoA carboxylase deficiency

Evidence Based Medicine Research for 3-methylcrotonyl-CoA carboxylase deficiency

Medical research articles related to 3-methylcrotonyl-CoA carboxylase deficiency include:

• The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model
• 3-methylcrotonyl-CoA carboxylase deficiency
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for 3-methylcrotonyl-CoA carboxylase deficiency

See full list of 4 related videos

Reseach about 3-methylcrotonyl-CoA carboxylase deficiency

Visit our research pages for current research about 3-methylcrotonyl-CoA carboxylase deficiency treatments.

Statistics for 3-methylcrotonyl-CoA carboxylase deficiency

• Medical statistics for 3-methylcrotonyl-CoA carboxylase deficiency
• Prevalence and incidence statistics for 3-methylcrotonyl-CoA carboxylase deficiency
• Death and Mortality statistics for 3-methylcrotonyl-CoA carboxylase deficiency
• Society statistics for 3-methylcrotonyl-CoA carboxylase deficiency

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Definitions of 3-methylcrotonyl-CoA carboxylase deficiency:

3-methylcrotonyl-CoA carboxylase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 3-methylcrotonyl-CoA carboxylase deficiency, or a subtype of 3-methylcrotonyl-CoA carboxylase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list 3-methylcrotonyl-CoA carboxylase deficiency as a "rare disease".
Source - Orphanet

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