Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Author:

Peetsold Marieke1ORCID,Goorden Susan2,Breuning Martijn3,Williams Monique4,Bakker Jaap5,Jacobs Ed6,Hussaarts-Odijk Lydia7,Peeters Cacha8

Affiliation:

1. Department of Pediatrics, Alrijne Medical Center, Leiderdorp, the Netherlands

2. Laboratory Genetic Metabolic Disease, Academic Medical Center, University of Amsterdam, the Netherlands

3. Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

4. Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands

5. Department of Pediatrics, Erasmus MC-Sophia Children’s Hospital, Erasmus University Medical Centre, Rotterdam, the Netherlands

6. Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Center, Leiden, the Netherlands

7. Department of Pediatrics, Erasmus MC-Sophia Children’s Hospital, Center of Lysosomal and Metabolic disorders, Erasmus University Medical Centre, Rotterdam, the Netherlands

8. Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands

Abstract

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.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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