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

Fumarate Hydratase / deficiency Humans Infant Male Metabolism, Inborn Errors / diagnostic imaging Muscle Hypotonia / diagnostic imaging Psychomotor Disorders / diagnostic imaging
FH gene Fumarase deficiency literature review mutation

Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
03 2021
Historique:
pubmed: 15 10 2020
medline: 7 1 2022
entrez: 14 10 2020
Statut: ppublish

Résumé

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 (

Identifiants

DOI: 10.1177/0883073820962931 PMID: 33052056
pubmed: 33052056
doi: 10.1177/0883073820962931
doi:

Substances chimiques

Fumarate Hydratase EC 4.2.1.2

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

310-323

Auteurs

Marieke Peetsold (M)

Department of Pediatrics, 72471Alrijne Medical Center, Leiderdorp, the Netherlands.
ORCID: 0000-0001-6038-039X

Susan Goorden (S)

Laboratory Genetic Metabolic Disease, 26066Academic Medical Center, University of Amsterdam, the Netherlands.

Martijn Breuning (M)

Department of Clinical Genetics, 4501Leiden University Medical Center, Leiden, the Netherlands.

Monique Williams (M)

Department of Pediatrics, 4501Leiden University Medical Center, Leiden, the Netherlands.

Jaap Bakker (J)

Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, 6984Erasmus University Medical Centre, Rotterdam, the Netherlands.

Ed Jacobs (E)

Department of Clinical Chemistry and Laboratory Medicine, 4501Leiden University Medical Center, Leiden, the Netherlands.

Lydia Hussaarts-Odijk (L)

Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, Center of Lysosomal and Metabolic disorders, 6984Erasmus University Medical Centre, Rotterdam, the Netherlands.

Cacha Peeters (C)

Department of Neurology, 4501Leiden University Medical Center, Leiden, the Netherlands.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Lyases › Carbon-oxygen lyases › Hydro-lyases › Fumarate hydratase › Fumarase Deficiency: A Case With a New...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Fumarase Deficiency: A Case With a New...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Fumarase Deficiency: A Case With a New...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Fumarase Deficiency: A Case With a New...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Hypotonie musculaire › Fumarase Deficiency: A Case With a New...
questionsmedicales.fr › Comportement et mécanismes comportementaux › Manifestations neurocomportementales › Troubles psychomoteurs › Fumarase Deficiency: A Case With a New...