3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

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Is everyone with 3-Methylcrotonyl-CoA Carboxylase Deficiency affected the same?

Since newborn screening began identifying children with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) it has been discovered that some children will have symptoms in infancy and others will never have symptoms. Your child may or may not have symptoms.

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What are early signs of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Did my child inherit 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) from me?

What can I do for siblings of children with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Where can caregivers of people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) get support?

I was told to speak to a genetic counselor about 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), what should I expect?

Do you need genetic testing for a diagnosis of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Can my child take a break from the diet for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

What are early signs of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Some people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) have symptoms that begin in infancy while others never have symptoms. 3-MCC can cause episodes of metabolic crisis which can cause poor appetite, lack of energy, irritability or behavior changes, weakness, nausea and/or vomiting. If these crises are not treated it may cause developmental delay, seizures, liver failure, coma, or death. Metabolic crisises are most often caused by illness or infection, fasting (going without food), and/or eating a lot of protein.

References
Did my child inherit 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) from me?

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is an autosomal recessive disorder. This means that a person needs two genetic changes (mutations) in order to be affected. Most people have two copies of every gene, one that comes from dad and one that comes from dad. People can be carriers of 3-MCC, meaning that they one of their genes has a change (mutation) but the other does not. These carriers are not affected by 3-MCC, however, they can pass on their changed gene to their children. If two carriers have child they have a 25% chance of each passing on their changed gene and having a child with 3-MCC.

What can I do for siblings of children with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

A child with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) syndrome demands a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child's pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

References
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605.
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012.
Where can caregivers of people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC). If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) syndrome include: The Organic Acidemia Association.

I was told to speak to a genetic counselor about 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), what should I expect?

Genetic counselors are experts in both genetics as well as the psychosocial implications of having a genetic condition. The genetic counselor will sit down with you and your family and go through the family history, discuss the diagnosis of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), and help you work through what the diagnosis means for your family. Genetic counselors can help you talk with other family members about the diagnosis. Genetic counselors can also help you identify support resources available to you, and possibly even connect you with other families who are experiencing the same diagnosis. To learn more about genetic counselors and to find one near you visit the National Society of Genetic Counselors webpage.

Do you need genetic testing for a diagnosis of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?
Can my child take a break from the diet for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Not everyone with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) will need treatment. Your child's doctor and dietician will know best whether or not your child can take a break from their diet. Your child's doctor may advise following a strict low-protein diet at all times so that your child can avoid entering a metabolic crisis - which, if untreated, can cause developmental delay, seizures, coma, and possibly death.

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