Methylmalonic Aciduria in Children: Clinical Recommendations

Баранов, А. А.; Намазова-Баранова, Л. С.; Боровик, Т.Э.; Бушуева, Т. В.; Вишнёва, Е. А.; Глоба, О. В.; Журкова, Н. В.; Захарова, Е. Ю.; Звонкова, Н. Г.; Kuzenkova, L.M.; Kutsev, Sergey I.; Михайлова, С. В.; Николаева, Е. А.; Новиков, П. В.; Пушков, А. А.; Савостьянов, К. В.; Селимзянова, Л. Р.

doi:10.15690/pf.v14i4.1757

Cited by 4 publications

(5 citation statements)

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“…Серед них: ензимотерапія фенілаланінгідрокси лазою, фенілаланінаммоніаліазою; лікування тетрагідробіоптерином (Сапроптерин). Є дані про успішне лікування пацієнтів із помірною або легкою фенілкетонурією із застосуванням тетра гідробіоптерину (10-20 мг/кг/добу) [4,7,69,68].…”

Section: клінічне обстеженняunclassified

“…Це пояснюється активним виведенням із сечею кон'югатів карнітину з накопиченими токсичними дериватами орга нічних кислот. Відповідно до клінічних реко мендацій, середня добова доза карнітину стано вить 100 мг/кг, у період метаболічної деком пенсації її підвищують до 150-200 мг/г [4,7].…”

Section: клінічне обстеженняunclassified

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Modern approach to diagnosis and treatment of seizures in newborns and early age children

Martyniuk¹,

Znamenska²,

Shveikina³

et al. 2021

MPU

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The article is devoted to the topical problem of neonatology and pediatric neurology — the diagnosis and treatment of seizures in newborns and young children. The work presents an algorithm for the diagnosis and treatment of epileptic seizures in children. It is indicated that the therapeutic effect of most antiepileptic drugs consists of modulation of voltage-gated and ligand-gated channels of membranes of neurons of the cerebral cortex, enhancement of inhibitory synaptic transmission or inhibition of activating synaptic transmission. The issues of the pharmacokinetics and pharmacodynamics of antiepileptic drugs are considered, taking into account the age characteristics of the child's body, in particular, newborns and early age children. The problems of drug interaction were discussed. The properties of individual antiepileptic drugs, which are used in newborns and young children, are considered. Emphasized are «polar» differences in the work of phenobarbital, which depend on the stage of epileptogenesis, namely: suppression of epileptiform activity at the early stage of epileptogenesis and its enhancement in the already formed epileptic focus (epileptic system). The literature data on the differentiated treatment of certain epileptic syndromes are presented. The issues on the prospects for the treatment of genetically determined diseases, which are accompanied by seizures associated with metabolic disorders, are considered. The modern high-tech methods of treatment of these diseases are noted. The role of diet therapy, co-factor therapy in the treatment of hereditary metabolic disorders, in particular, the ketogenic diet as a method of alternative treatment for drug-resistant epilepsy in children, is shown. No conflict of interest was declared by the authors. Key words: newborn, epilepsy, epileptic encephalopathy, treatment, antiepileptic drugs, review.

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Section: клінічне обстеженняunclassified

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Martyniuk¹,

Znamenska²,

Shveikina³

et al. 2021

MPU

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“…При метилмалоновой ацидемии пациенты нуждаются в ограничении поступления в организм сразу четырех аминокислот -метионина, треонина, валина и изолейцина. Для обеспечения физиологиче-ской потребности в белке используют специализиро-ванный продукт лечебного питания, лишенный этих аминокислот [6,7].…”

Section: диетотерапия наследственных болезней обмена веществunclassified

“…Высокие дозы витамина В 12 2-5 мг/сут назнача-ются для лечения В 12 -зависимых форм метилмало-новой ацидемии, обусловленной дефектами генов биосинтеза аденозилкобаламина (MMAA, MMAB) -кофактора метилмалонил-КоА-мутазы [6,7]. Кроме того, лечению витамином В 12 поддается часть боль-ных метилмалоновой ацидемией, связанной с непол-ным дефицитом метилмалонил-КоА-мутазы (MUT -).…”

Section: медикаментозная терапия наследственных болезней обмена веществunclassified

“…Это объясняется активным выведением с мочой конъюгатов карнитина с накапливающи-мися токсичными дериватами органических кислот. Согласно клиническим рекомендациям, средняя суточная доза карнитина составляет 100 мг/кг, в пе-риод метаболической декомпенсации ее повышают до 150-200 мг/кг [6,7].…”

Section: медикаментозная терапия наследственных болезней обмена веществunclassified

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Modern Possibilities of Hereditary Diseases Treatment in Children

Николаева¹,

Семячкина²

2018

Ross. vestn. perinatol. pediatr.

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In recent decades, the progressive development of medical genetics has led to significant advances in the diagnosis and therapy of hereditary pathology. As a result, the attitude of clinicians to hereditary diseases as to fatal and incurable, is gradually changing. Early dietary therapy of phenylketonuria and a number of other diseases provides full medical and social habilitation of children. Cofactor therapy, including a special vitamin therapy, is crucial in the treatment of enzymopathiessuch as: lack of biotinidase, homocystinuria, etc. Levocarnitine therapy shows high efficiency in a number of organic acidemias. A breakthrough in the treatment of lysosomal diseases should be considered the development of enzyme-substituting and substrate-reducing drugs. Further improvement of the effectiveness of hereditary diseases treatment seems to be associated with the introduction of gene therapy methods.

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Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Bugun,

Bogonosova,

Astakhova

et al. 2024

Vopr. sovr. pediatr.

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Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders. Determination of specific metabolites in biological fluids and molecular genetic testing are crucial to diagnose this disease. Timely diagnosis mainly determines the treatment efficacy and, therefore, the prognosis of MMA development. Clinical case description. Two siblings with MMA caused by methylmalonyl-CoA mutase deficiency (OMIM #251000) have shown duplication chr6-49459106-T-TA: NM_000255.4c.360dupT (p.Lys121fs) in homozygous state in exon 2 of the MMUT gene. The disease was diagnosed in the first child with underlying metabolic crisis that finally led to irreversible changes in organs and systems and lethal outcome. The diagnosis in the second child was established antenatally, thus, therapy was initiated from the first day of life. Favorable clinical course of the disease was observed during 5 months of follow-up. Conclusion. Timely MMA diagnosis (antenatal or during neonatal screening) is crucial for effective management and relatively favorable life prognosis for infants.

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Methylmalonic Aciduria in Children: Clinical Recommendations

Cited by 4 publications

References 9 publications

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Modern Possibilities of Hereditary Diseases Treatment in Children

Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

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