ESPE Abstracts

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

Inherited disorders of biogenic amine metabolism are rare neurometabolic disorders caused by defects in neurotransmitters (dopamine, serotonin, norepinephrine, epinephrine). Dopamine deficiency leads to hyperprolactinemia. Prolactin blood level is used as peripheral indirect biomarker of central dopamine deficiency and can help in adjusting the therapy dosage, which primarily consists of using L-dopa. However, patients may become refractory to L-dopa and they could present hyp...