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.
| Mualliflar | Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, Нигина Анорбековна Вахобова |
|---|---|
| Jurnal | Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research |
| Nashriyot | Бухоро давлат тиббиёт институти |
| Nashr sanasi | 2026-06-22 |
| Jild | 7 |
| Son | 4 |
| Til | Ingliz |
| Ilmiy soha | Tibbiyot |
| Indeksga qo‘shilgan | 2026-08-26 |
комбинированная малоновая и метилмалоновая ацидурия, ACSF3, органические ацидурии, эпилептическая энцефалопатия, полноэкзомное секвенирование, наследственные болезни обмена веществ, combined malonic and methylmalonic aciduria, ACSF3, organic acidurias, epileptic encephalopathy, whole-exome sequencing, inherited metabolic disorders, kombinatsiyalangan malon va metilmalon atsiduriya, ACSF3, organik atsiduriyalar, epileptik ensefalopatiya, to‘liq ekzom sekvenirlash
| APA | 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). https://tadqiqot.uz/index.php/neurology/article/view/14309 |
|---|---|
| GOST (OAK) | Шаанвар Шамурадович Шамансуров va b. 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. – T. 7, № 4. |
| MLA | Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, and 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, 7(4), 2026. https://tadqiqot.uz/index.php/neurology/article/view/14309 |
| Chicago | Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, and 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, 7(4) (2026). https://tadqiqot.uz/index.php/neurology/article/view/14309 |
| Harvard | Шаанвар Шамурадович Шамансуров, Шахло Хибзиддиновна Саидазизова, Нодирахон Маликовна Туляганова, and 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). https://tadqiqot.uz/index.php/neurology/article/view/14309 |
| BibTeX | @article{article2026,
title = {COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH EPILEPSY AND MOTOR DISORDERS IN A CHILD BORN FROM A CONSANGUINEOUS MARRIAGE},
author = {Шаанвар Шамурадович Шамансуров and Шахло Хибзиддиновна Саидазизова and Нодирахон Маликовна Туляганова and Нигина Анорбековна Вахобова},
journal = {Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research},
year = {2026},
volume = {7},
number = {4},
url = {https://tadqiqot.uz/index.php/neurology/article/view/14309}
} |
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