Nonketotic hyperglycinemia: rare metabolic disease in a newborn

Nonketotic hyperglycinemia: rare metabolic disease in a newborn

N.Kh. Gabitova¹, I.N. Cherezova¹, N.R. Valeeva² 

¹Kazan State Medical University, Kazan

²Children Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan 

Nonketotic hyperglycinemia is a rare neurometabolic disease with an autosomal recessive inheritance. Hereditary metabolic diseases are characterized by an acute onset with irreversible damage to the nervous system and high infant mortality. There is no effective etiotropic treatment for this disease, the outcome depends on the clinical type. The article presents a brief overview of the disease pathogenetic mechanism, age-related features of various forms and clinical types of glycine encephalopathy, diagnostic criteria of the disease, clinical classification and treatment principles. The author presents his clinical case concerning the neonatal form of a rare metabolic disease in a newborn. The presented clinical case demonstrates the complexity of the diagnostic search due to the non-specificity of the clinical manifestations of metabolic disorders, similar to other diseases accompanied by damage to the nervous system. The presented clinical case demonstrates the complexity of the diagnostic search in view of the nonspecific clinical manifestations of metabolic disorders similar to other diseases accompanied by damage to the nervous system and an unfavorable outcome.

Keywords: glycine encephalopathy, newborn, children, inherited metabolic disorders, treatment, outcome.

For citation: Gabitova N.Kh., Cherezova I.N., Valeeva N.R. Nonketotic hyperglycinemia: rare metabolic disease in a newborn. RMJ. 2023;3:45–48.