Abstract | UNLABELLED: CASE REPORT: A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years. She became pale and sweaty with hypothermia (33.5°C), bradycardia (45 bpm), and acidosis and presented a generalized seizure. During the 17-hour fast test performed to determine the etiology of her hypoglycemia, insulin and C-peptide were appropriately low, and human GH, IGF-I, cortisol, amino acids, and acylcarnitines were in the usual range for fasting duration. However, the presence of vanillactic and vanilpyruvic acids in urine led us to investigate the metabolism of dopamine and serotonin in the cerebrospinal fluid. Indeed, these results indicated an aromatic L-amino acid decarboxylase deficiency that impairs the synthesis of serotonin, dopamine, and catecholamines. The diagnosis was confirmed by the low aromatic L-amino acid decarboxylase (AADC) enzyme activity in plasma (5 pmol/min/mL; reference value, 20-130) and the presence of two heterozygous mutations, c.97G>C (p.V33L, inherited from her father) and c.1385G>C (p.R462P, inherited from her mother) in the DCC gene. She was supplemented with pyridoxine and raw cornstarch (1 g/kg) at evening dinner to reduce the night fast. The episodes of hypoglycemia and the chronic diarrhea were suppressed. CONCLUSION:
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Authors | Jean-Baptiste Arnoux, Léna Damaj, Sylvia Napuri, Valérie Serre, Laurence Hubert, Marylène Cadoudal, Gilles Simard, Irène Ceballos, Laurence Christa, Pascale de Lonlay |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 98
Issue 11
Pg. 4279-84
(Nov 2013)
ISSN: 1945-7197 [Electronic] United States |
PMID | 24037885
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Blood Glucose
- Aromatic-L-Amino-Acid Decarboxylases
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Topics |
- Amino Acid Metabolism, Inborn Errors
(complications, genetics)
- Aromatic-L-Amino-Acid Decarboxylases
(deficiency, genetics)
- Blood Glucose
(genetics)
- Child, Preschool
- Fasting
- Female
- Homeostasis
(genetics)
- Humans
- Hypoglycemia
(etiology, genetics)
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