2-methylbutyryl-CoA dehydrogenase deficiency
MONDO:0012392A 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.
Also known as: 2-methylbutyric aciduria, 2-methylbutyryl-CoA dehydrogenase deficiency, 2-methylbutyrylglycinuria, SBCAD deficiency, butyryl-CoA dehydrogenase deficiency, developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency, short/branched-chain acyl-coA dehydrogenase deficiency, 2-methylbutyryl Glycinuria
24 clinical trials for this condition and its sub-types.
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase: PHASE2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New metabolomic test could spot rare metabolic diseases faster
Diagnosis CompletedThis study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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New registry tracks pregnancy in women with rare metabolic diseases
Knowledge-focused CompletedThis study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Study reveals HPV vaccine gaps in teens with chronic illness
Knowledge-focused CompletedThis study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC