Parents

HADHB (beta-hydroxyacyl-CoA dehydrogenase) gene mutations result in a variety of clinical features collectively known as mitochondrial trifunctional protein (MTP) deficiency. The disorder is recessive and develops if the individual receives two mutated genes form the parent. The affected individuals can present in infancy or childhood with a range of symptoms that can be divided into three main categories: early cardiac and metabolic disorder, hepatic form or muscular/neuropathy depending on the severity.

Presence of carnitylated- long chain fatty acids in blood analysis is frequent. MTP deficiency is an ultra rare disorder difficult to assess because of the rarity and the variety of presentations (40 mutations reported so far).