The use of specialized products of children’s dietary medical nutrition for children with organic aciduria (acidemia)

Целью данного исследования было изучить эффективность и переносимость специализированных продуктов детского диетического лечебного питания у детей с наследственными нарушениями обмена аминокислот с рождения до трех лет. Проведено открытое, многоцентровое, проспективное, неконтролируемое исследование. В исследование включены 8 пациентов с установленным диагнозом в возрасте от рождения до 2 лет 11 месяцев. Пациенты были распределены на группы в зависимости от диагноза и вида исследуемого продукта (ИП). Оценка эффективности проводилась в соответствии с принципами надлежащей клинической практики, на основании полученных клинических и лабораторных данных. На протяжении всего исследования все пациенты успешно принимали ИП. Диспепсических явлений, аллергических реакций, ухудшения соматического и неврологического статуса не зарегистрировано ни в одном случае. На фоне лечения зафиксированы оптимальные уровни нейротоксичных метаболитов в крови и моче. Показана высокая клиническая эффективность ИП у детей с наследственными нарушениями обмена аминокислот с рождения до трех лет. To assess the efficacy, safety and tolerability of the products specialized children's dietary nutritional therapy in children with Inherited disorders of amino acid metabolism from birth to three years. 8 children from birth to 2y 11m with verified diagnoses were enrolled in this open-label multicenter prospective non-controlled study. Patients were separated to the groups depending on diagnose and nutritional treatment products. Clinical efficacy of the products was assessed according to the Good Clinical Practice guidelines based on clinical and laboratory tests. All patients taken nutritional treatment products throughout the study. No dyspepsia, allergic reactions, impairment of somatic and neurological status were reported. After the treatment, levels of neurotoxic metabolites in the blood and urine were optimal. Nutritional therapy is highly effective in children with Inherited disorders of amino acid metabolism from birth to three years.

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Peritoneal Dialysis in the Treatment of Metabolic Crises Caused by Inherited Disorders of Organic and Amino Acid Metabolism

Acta Paediatrica ◽

10.1111/j.1651-2227.1989.tb11130.x ◽

1989 ◽

Vol 78 (5) ◽

pp. 706-711 ◽

Cited By ~ 29

Author(s):

L. GORTNER ◽

D. LEUPOLD ◽

F. POHLANDT ◽

P. BARTMANN

Keyword(s):

Peritoneal Dialysis ◽

Amino Acid ◽

Amino Acid Metabolism ◽

Acid Metabolism ◽

Inherited Disorders

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Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region

Turkish Journal of Biochemistry ◽

10.1515/tjb-2020-0338 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Özlem Öz ◽

Emiş Deniz Akbulut ◽

Müjgan Ercan Karadağ ◽

Ataman Gönel ◽

İsmail Koyuncu

Keyword(s):

Amino Acid ◽

Amino Acid Metabolism ◽

Metabolic Disorders ◽

Acid Metabolism ◽

Gene Mutations ◽

Common Disease ◽

Type I ◽

Inherited Disorders ◽

Genetic Test Results ◽

Pah Gene

Abstract Objectives Inborn errors of metabolism are generally autosomal recessive inherited disorders. The incidence and genetic features of neonatal metabolic disorders vary significantly by regions and populations. In this study, we aimed to determine the amino acid metabolism disorders and evaluate the genetic test results of these patients retrospectively. Methods The blood samples collected from heel blood and dried on filter cards in the neonatal screening program, were analyzed for amino acid metabolism disorders by (LC)-MS/MS method. Patients with suspected metabolic diseases were diagnosed with NGS method. Results Amino acid metabolism disorders were detected in 66 of 2,104 patients who were screened for suspected neonatal metabolic disorders. Sixty-two of 66 patients were diagnosed with phenylketonuria, the rest of them were diagnosed with tyrosinemia type I, arginosuccinate lyase deficiency, citrullinemia type 1 and Maple Tree syrup disease. The most common PAH gene mutations were c.1208C>T (A403V). Conclusion Phenylketonuria was the most common disease among amino acid metabolism disorders in Şanlıurfa. There were different allele frequencies compared to the PAH mutations reported in previous studies. This may be due to the different characteristics of the populations and also the high rate of consanguineous marriage in our region.

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