3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: Introduction

3 alpha methylcrotonyl-Coa carboxylase 1 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. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency. More detailed information about the symptoms, causes, and treatments of 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency is available below.

Symptoms of 3 alpha methylcrotonyl-Coa carboxylase 1 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 alpha methylcrotonyl-Coa carboxylase 1 deficiency

3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: Complications

Review possible medical complications related to 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency:

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

Wrongly Diagnosed with 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency?

• Misdiagnosis of 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
• Failure to diagnose 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
• Undiagnosed: 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

Misdiagnosis and 3 alpha methylcrotonyl-Coa carboxylase 1 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 alpha methylcrotonyl-Coa carboxylase 1 deficiency

Treatments for 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

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

Read more about treatments for 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

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Definitions of 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency:

3 alpha methylcrotonyl-Coa carboxylase 1 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 alpha methylcrotonyl-Coa carboxylase 1 deficiency, or a subtype of 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)