Trifunctional protein deficiency

Common Name(s)

Trifunctional protein deficiency, Trifunctional protein (TFP) deficiency, Mitochondrial trifunctional protein deficiency

Trifunctional protein deficiency (TFP) is a rare genetic condition. TFP results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with TFP have problems with breaking down certain fats properly. TFP occurs when the body does not make enough or makes non-working TFP enzyme. Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. In this case, the job of the TFP enzyme is to break down the long-chain fatty acids, which are parts of the fat found in our food. Those with TFP can’t use this type of fatty acid for energy because it can't be broken down. This also causes a build-up of too many unused long-chain fatty acids, which can be harmful to the body.

There are three forms of TFP: early, childhood, and mild. With early TFP, the person may see signs between birth and age two, while those with childhood TFP show signs after infancy. Mild TFP is very uncommon. If the person has mild TFP, signs may begin any time between age two and adulthood. The symptoms may include irritability, sleeping longer, tiredness, vomiting, weak muscle tone (hypotonia), poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), no reflexes or pain responses, developmental delays, and behavior changes. If untreated, individuals are at risk for developing life-threatening heart and breathing problems; and low blood sugar episodes can lead to coma or death. Diet and supplements can prevent many of these complications. Many babies are screened for TFP at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. TFP is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trifunctional protein deficiency" for support, advocacy or research.

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Children's European Mitochondrial Disease Network

We provide information about all mitochondrial disorders and support caregivers, parents, and professionals.

Last Updated: 1 Jun 2015

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 28 Jul 2015

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

Last Updated: 28 Jul 2015

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Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 12 Jul 2016

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trifunctional protein deficiency" for support, advocacy or research.

Logo
Children's European Mitochondrial Disease Network

We provide information about all mitochondrial disorders and support caregivers, parents, and professionals.

http://www.emdn-mitonet.co.uk

Last Updated: 1 Jun 2015

View Details
Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 28 Jul 2015

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

http://www.mitoaction.org/

Last Updated: 28 Jul 2015

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Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 12 Jul 2016

View Details
United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Trifunctional protein deficiency" returned 9 free, full-text research articles on human participants. First 3 results:

Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
 

Author(s): Mahdiyeh Shahrokhi, Mohammad Shafiei, Hamid Galehdari, Gholamreza Shariati

Journal: Arch Iran Med. 2017 Jan;20(1):22-27.

 

Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four α-subunits containing LCEH (long-chain 2,3-enoyl-CoA  hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and four β-subunits that possess LCKT (long-chain ...

Last Updated: 23 Jan 2017

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Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
 

Author(s): Melanie B Gillingham, Jonathan Q Purnell, Julia Jordan, Diane Stadler, Andrea M Haqq, Cary O Harding

Journal: Mol. Genet. Metab.. 2007 Jan;90(1):64-9.

 

The incidence of overweight and obesity is increasing among children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or mitochondrial trifunctional (TFP) deficiency. Traditional treatment includes fasting avoidance and consumption of a low-fat, high-carbohydrate diet. A diet ...

Last Updated: 12 Dec 2006

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Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
 

Author(s): Melanie B Gillingham, Bradley Scott, Diane Elliott, Cary O Harding

Journal: Mol. Genet. Metab.. ;89(1-2):58-63.

 

Exercise induced rhabdomyolysis is a complication of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (TFP) deficiency that frequently leads to exercise avoidance. Dietary therapy for most subjects includes medium-chain triglyceride (MCT) ...

Last Updated: 18 Aug 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Trifunctional protein deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fatty Acid Oxidation Defects and Insulin Sensitivity
 

Status: Recruiting

Condition Summary: Very Long-chain Acyl-CoA Dehydrogenase Deficiency; Trifunctional Protein Deficiency; Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Normal Volunteers

 

Last Updated: 26 Sep 2016

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Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency Disease; ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of; Barth Syndrome

 

Last Updated: 28 Nov 2016

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