Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research Volume 7 Issue 4 (2026)

COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE

Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, Нигина Анорбековна Вахобова

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Abstract

Combined malonic and methylmalonic aciduria (CMAMMA) is a rare inherited metabolic disorder caused by mutations in the ACSF3 gene. The disease is characterized by neurological impairment, developmental delay, epileptic seizures, and movement disorders. We present a clinical case of a 1.5-year-old child born from a consanguineous marriage with severe epileptic encephalopathy and significant neurological deficits. This case highlights the importance of comprehensive clinical, biochemical, and molecular genetic evaluation in the diagnosis of rare inherited metabolic disorders.

комбинированная малоновая и метилмалоновая ацидурия, ACSF3, органические ацидурии, эпилептическая энцефалопатия, полноэкзомное секвенирование, наследственные болезни обмена веществcombined malonic and methylmalonic aciduria, ACSF3, organic acidurias, epileptic encephalopathy, whole-exome sequencing, inherited metabolic disorderskombinatsiyalangan malon va metilmalon atsiduriya, ACSF3, organik atsiduriyalar, epileptik ensefalopatiya, to‘liq ekzom sekvenirlash

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Cite

APA 7 
Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова & Нигина Анорбековна Вахобова (2026). COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE. Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research, 7(4).
GOST R 7.0.5 
Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, Нигина Анорбековна Вахобова COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE // Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research. 2026. Т. 7. № 4.
BibTeX 
@article{шамансуров2026,
  author  = {Шаанвар Шамурадович Шамансуров and Шахло Хибзиддиновна Саидазизова and Нодирахон Маликовна Туляганова and Нигина Анорбековна Вахобова},
  title   = {COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE},
  journal = {Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research},
  year    = {2026},
  volume  = {7},
  number  = {4}
}
RIS 
TY  - JOUR
AU  - Шаанвар Шамурадович Шамансуров
AU  - Шахло Хибзиддиновна Саидазизова
AU  - Нодирахон Маликовна Туляганова
AU  - Нигина Анорбековна Вахобова
TI  - COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE
JO  - Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research
PY  - 2026
VL  - 7
IS  - 4
ER  -