ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 4 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2024; 16(3): 361-366 | DOI: 10.4274/jcrpe.galenos.2022.2022-9-12

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

Merve Yoldaş Çelik1, Ebru Canda1, Havva Yazıcı1, Fehime Erdem1, Ayşe Yüksel Yanbolu1, Ayça Aykut2, Asude Durmaz2, Ahmet Anık3, Sema Kalkan Uçar1, Mahmut Çoker1
1Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey
2Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey
3Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey

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.

Keywords: Aromatic L-amino acid decarboxylase deficiency, AADC deficiency, hypoglycemia, neurotransmitter deficiency

Corresponding Author: Merve Yoldaş Çelik, Türkiye
Manuscript Language: English
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