Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl
Makaleler > Tam Makale · 2022
Yazarlar: merve yoldaş çelik, Ebru CANDA, Havva YAZICI, FEHİME ERDEM, Ayşe YÜKSEL YANBOLU, Ayça AYKUT, Asude DURMAZ, AHMET ANIK, Sema KALKAN UÇAR, Mahmut ÇOKER
J Clin Res Pediatr Endocrinol, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2022, cilt 16, ss 361-366
DOI: 10.4274/jcrpe.galenos.2022.2022-2022-9-12
Özet
What is already known on this topic? AADC deficiency is an inherited metabolic disease that leads to a deficiency of serotonin, dopamine, epinephrine, and norepinephrine. Neurological findings are dominant due to deficiencies in neurotransmitter synthesis, but hypoglycemia can occur by autonomic dysfunction. What this study adds? The first finding of our case with mild AADC deficiency was hypoglycemia.In patients presenting with hypoglycemia, AADC deficiency should be considered in the differential diagnosis, even if there are no neurological findings.