Multiple acyl-CoA dehydrogenase deficiency
MONDO:0009282A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
Also known as: Glutaric Aciduria Type II, MAD deficiency, MADD, electron transfer flavoprotein deficiency, glutaric acidemia type 2, glutaric acidemia type II, glutaric aciduria type 2, glutaric aciduria, type 2
21 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC
-
Can tracking MADD's natural course unlock better care?
Knowledge-focused Not yet recruitingThis study follows people with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) over time to learn how the condition progresses and affects daily life. Researchers will collect health data and patient feedback to identify patterns and potential markers of the disease. The goal i…
Sponsor: Icahn School of Medicine at Mount Sinai • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC