Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Autor: Yoldaş Çelik M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Canda E; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yazıcı H; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Erdem F; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yüksel Yanbolu A; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Aykut A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Durmaz A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Anık A; Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey, Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Çoker M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey
Jazyk: angličtina
Zdroj: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Sep 05; Vol. 16 (3), pp. 361-366. Date of Electronic Publication: 2023 Jan 04.
DOI: 10.4274/jcrpe.galenos.2022.2022-9-12
Abstrakt: Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a case of mild AADC deficiency presenting with hypoglycemia without any neurological signs. A 4-year-old girl presented with recurrent hypoglycemia. Her growth and development were normal. Plasma insulin and cortisol values were normal in the sample at the time of hypoglycemia. C8:1-Carnitine elevation was detected in the acylcarnitine profile. A clinical exome panel was performed with the suggestion of a fatty acid oxidation defect. However, a homozygous variant in the DDC gene was detected. Furthermore, cerebrospinal fluid neurotransmitter analysis revealed low 5-hydroxyindolacetic acid and homovanillic acid and high 3-O-methyl-dopa and methyltetrahydrofolate (5 MTHF) consistent with AADC deficiency. Plasma AADC enzyme activity was low. The episodes of hypoglycemia were treated with uncooked cornstarch. This case suggests that AADC deficiency should be considered in some patients with hypoglycemia.
Competing Interests: Conflict of interest: None declared.
(©Copyright 2024 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)
Databáze: MEDLINE
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