2-methylbutyryl-CoA dehydrogenase deficiency

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2-methylbutyryl-CoA dehydrogenase deficiency

Synonyms: 2-methylbutyric aciduria | Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency | SBCAD deficiency | Short/branched-chain acyl-coA dehydrogenase deficiency

A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic although patients with muscular hypotonia developmental delay and seizures (among others) have been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Organic Acidemia Association

Our mission is to empower families and health care professionals with knowledge in these 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.

patriot for growth and development initiative

Patriots for Growth and Development Initiatives (PGDI), is dedicated to creating a sustainable and equitable world where everyone has access to basic amenities, quality education, decent healthcare, and good livelihoods. Our mission is to promote sustainable development, democracy and good governance, anti-corruption, and accountability, health with a specific focus on rare diseases.

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.