Modern Pediatrics. Ukraine. (2025).5(149): 159-161. doi: 10.15574/SP.2025.5(149).159161
Kyseleva V. E.¹, Kopiyka G. K.^2
1KNP "Children's City Clinical Hospital No. 3" of the Odessa City Council, Ukraine
²Odessa National Medical University, Ukraine

For citation: Kyseleva VE, Kopiyka GK. (2025). Clinical case of early diagnosis of Hierke's disease. Modern Pediatrics. Ukraine. 5(149): 159-161. doi: 10.15574/SP.2025.5(149).159161.

Glucose-6-phosphatase deficiency (glycogen storage disease I, von Hierke's disease) refers to hereditary metabolic diseases (SHD), which often manifest in the neonatal period and have a rapidly progressive course, therefore often remain unrecognized, or are confirmed after the death of the child. today remains insufficient,
Aim – to increase the awareness of doctors about the manifestations and diagnosis of SHD.
Clinical case. The medical history of a 5-month-old child with a complaint of a seizure during an examination by a pediatrician in the outpatient department is provided. The child was hospitalized in the pediatric department, where a coronavirus infection was diagnosed according to the rapid test, then digestive system disorders in the form of vomiting, loose stools, and a decrease in the number of breastfeeds were added. From the anamnesis of life, it is known that an episode of hypoglycemia was noted on the first day after birth. Objectively, the child's condition is severe: lethargy, decreased appetite, periodic vomiting, a decrease in blood glucose levels to 1.9 mmol/l was recorded. The rapid development of metabolic acidosis (pH=7.0; HCO3=5.7 mmol/L), increased lactate dehydrogenase (LDH=9.1 U/L) and acute phase indices (C-reactive protein (CRP=26.7 mg/L), erythrocyte sedimentation rate (ESR=27 mm/h), procalcitonin (PCT=6.2 ng/L), leukocytosis (L=16.4 G/L), with a left shift of the formula, and hypokalemia (K=2.24 mmol/L) forced us to conduct a differential diagnosis between an infectious process complicated by the development of sepsis and SHO. The rapid positive dynamics during the correction of metabolic disorders and the same rapid regression after stopping the glucose infusion were in favor of SHO. A preliminary diagnosis of Hierke's disease was made, which was confirmed by genetic research.
Conclusion. Awareness of possible clinical manifestations of SHO, rapid coordinated actions at the time of development of metabolic crises and organization of the child's feeding regimen can contribute to their early diagnosis and save the lives of patients.
Keywords: children, hypoglycemia, hereditary metabolic diseases, Gierke's disease.

REFERENCES

1. Nana M, Anastasopoulou C, Parikh NS et al. (2025). Glycogen Storage Disease Type I. [Updated 2025 Apr 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. URL: https://www.ncbi.nlm.nih.gov/books/NBK534196/.

2. Raza M, Arif F, Giyanwani P et al. (2017, Aug 8). Dietary Therapy for Von Gierke's Disease: A CaseReport. Cureus. 9(8): e1548. https://doi.org/10.7759/cureus.154