Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.
Short-chain acylCoA dehydrogenase (SCAD) deficiency is a rare mitochondrial disorder involving the beta-oxidation of fatty acylCoA compounds in chains of 4-6 carbons. Unlike other mitochondrial disorders, cases involving autoimmune diseases have not been described. We report a 15-year-old boy with SCAD deficiency who suffered from pernicious anaemia, vitiligo, scleroatrophic lichen and autoimmune thyroiditis. As has been reported in other mitochondrial disorders, we hypothesised that autoimmune diseases are also present in SCAD deficiency. Furthermore, we discuss the possible pathogenetic relationship between these diseases.
Stagi
Stefano
S
Paediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy. stefano.stagi@yahoo.it
Gasperini
Serena
S
Manoni
Cristina
C
Greco
Antonella
A
Funghini
Silvia
S
Donati
Alice
A
D000293:Adolescent; D000752:Anemia, Pernicious / Q000150:complications* / Q000235:genetics; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics*; D044926:Butyryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D018459:Lichen Sclerosus et Atrophicus / Q000150:complications* / Q000235:genetics; D008297:Male; D013967:Thyroiditis, Autoimmune / Q000150:complications* / Q000235:genetics; D014820:Vitiligo / Q000150:complications* / Q000235:genetics
D044926:Butyryl-CoA Dehydrogenase