Laboratory of Metabolic Biochemistry

Le Touquet – Paris-Plage, France

Laboratory of Metabolic Biochemistry

Le Touquet – Paris-Plage, France

Time filter

Source Type

Lambrecht A.,Catholic University of Leuven | Maurey H.,Hopital Bicetre | Drunat S.,Hopital Robert Debre | Drunat S.,University of Paris Pantheon Sorbonne | And 6 more authors.
Molecular Genetics and Metabolism Reports | Year: 2015

We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism. © 2015 The Authors. Published by Elsevier Inc.


Rebai I.,National Institute Mongi Ben Hmida of Neurology | Kraoua I.,National Institute Mongi Ben Hmida of Neurology | Benrhouma H.,National Institute Mongi Ben Hmida of Neurology | Rouissi A.,National Institute Mongi Ben Hmida of Neurology | And 3 more authors.
Brain and Development | Year: 2014

Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation. © 2014 The Japanese Society of Child Neurology.


PubMed | National Institute Mongi Ben Hmida of Neurology and Laboratory of Metabolic Biochemistry
Type: Case Reports | Journal: Brain & development | Year: 2014

Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation.


Del Mar Gonzalez-Barroso M.,Laboratory of Metabolic Biochemistry | Del Mar Gonzalez-Barroso M.,CSIC - Biological Research Center | De Lonlay P.,University of Paris Descartes | Ricquier D.,Laboratory of Metabolic Biochemistry | And 2 more authors.
Frontiers in Diabetes | Year: 2012

Glucose-stimulated insulin secretion by pancreatic beta-cells is a highly complex process. Mitochondria play a critical role in the control of this pathway mainly by modulating ATP supply. Reactive oxygen species have also been proposed as metabolic signals in glucose-induced insulin secretion. A partial uncoupling of mitochondrial substrate oxidation from ATP synthesis would decrease insulin secretion. The mitochondrial uncoupling protein UCP2 was firstly considered as a regulator of ATP production in beta-cells by uncoupling oxidative phosphorylation. The mitochondrial proton transporter responsible for heat production by brown adipocyte mitochondria is evolutionarily related to UCP1. Genetic, physiological, and pathological studies suggest that UCP2 is a negative regulator of insulin secretion in rodents and humans. We identified loss-of-function mutations in the UCP2 gene in 2 young patients with congenital hyperinsulinism, making UCP2 a candidate gene for this disease. Functional studies of the mutants confirmed this hypothesis. It has been proposed that UCP2 could attenuate insulin secretion through a dual role in beta-cells by decreasing the ATP/ADP ratio or modulating the production of reactive oxygen species. This chapter describes the proposed implications of UCP2 as a modulator of insulin secretion in beta-cells. The contribution of UCP2 in glucose metabolism and sensing in other cell types is also discussed. © 2012 S. Karger AG, Basel.

Loading Laboratory of Metabolic Biochemistry collaborators
Loading Laboratory of Metabolic Biochemistry collaborators