Microcephaly in Neurometabolic Diseases
Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in t...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/9/1/97 |
| _version_ | 1797495008516898816 |
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| author | Wiktoria Kempińska Karolina Korta Magdalena Marchaj Justyna Paprocka |
| author_facet | Wiktoria Kempińska Karolina Korta Magdalena Marchaj Justyna Paprocka |
| author_sort | Wiktoria Kempińska |
| collection | DOAJ |
| description | Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders. |
| first_indexed | 2024-03-10T01:42:22Z |
| format | Article |
| id | doaj.art-7d1e8eb1cdf049518a9ea5037011c03d |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T01:42:22Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-7d1e8eb1cdf049518a9ea5037011c03d2023-11-23T13:21:51ZengMDPI AGChildren2227-90672022-01-01919710.3390/children9010097Microcephaly in Neurometabolic DiseasesWiktoria Kempińska0Karolina Korta1Magdalena Marchaj2Justyna Paprocka3Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandNeurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders.https://www.mdpi.com/2227-9067/9/1/97microcephalyneurometabolicneurometabolic diseasescongenital microcephalyacquired microcephaly |
| spellingShingle | Wiktoria Kempińska Karolina Korta Magdalena Marchaj Justyna Paprocka Microcephaly in Neurometabolic Diseases Children microcephaly neurometabolic neurometabolic diseases congenital microcephaly acquired microcephaly |
| title | Microcephaly in Neurometabolic Diseases |
| title_full | Microcephaly in Neurometabolic Diseases |
| title_fullStr | Microcephaly in Neurometabolic Diseases |
| title_full_unstemmed | Microcephaly in Neurometabolic Diseases |
| title_short | Microcephaly in Neurometabolic Diseases |
| title_sort | microcephaly in neurometabolic diseases |
| topic | microcephaly neurometabolic neurometabolic diseases congenital microcephaly acquired microcephaly |
| url | https://www.mdpi.com/2227-9067/9/1/97 |
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