Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature
| Autor: | Jaap Bakker, Cacha Peeters, Ed Jacobs, Susan M. I. Goorden, Marieke Peetsold, Martijn H. Breuning, Monique Williams, Lydia Hussaarts-Odijk |
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| Přispěvatelé: | Pediatrics |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Microcephaly Fumarase deficiency literature review 030105 genetics & heredity Biology medicine.disease_cause Fumarate Hydratase 03 medical and health sciences 0302 clinical medicine medicine Humans FH gene Gene chemistry.chemical_classification Genetics Mutation Pathogenic mutation Infant medicine.disease Enzyme chemistry Fumarase Pediatrics Perinatology and Child Health Failure to thrive Muscle Hypotonia Neurology (clinical) Psychomotor Disorders mutation medicine.symptom Metabolism Inborn Errors 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology, 36(4), 310-323. SAGE Publishing Journal of Child Neurology, 36(4), 310-323. SAGE PUBLICATIONS INC |
| ISSN: | 0883-0738 |
| Popis: | Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase ( FH) gene. Several pathogenic mutations have been published. The article describes an infant with failure to thrive, microcephaly, axial hypotonia, and developmental retardation with increased excretion of fumarate, no activity of fumarase and a homozygous mutation of the FH gene, which was until recently only known as a variant of unknown significance. Carriers of pathogenic mutations in the FH gene are at risk for developing renal cell carcinoma and should therefore be screened. Both parents were healthy carriers of the mutation and had decreased levels of enzyme activity. In addition, the article presents an overview and analysis of all cases of FD reported thus far in the literature. |
| Databáze: | OpenAIRE |
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