Pascale de Lonlay
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, et al
. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis. 2017;12:3 pubmed publisher
..A borderline association between increased levels of plasma lysine and poorer outome is suggested. Greater efforts at prevention are warranted to optimise the long-term management in these patients. ..
Esteve E, Krug P, Hummel A, Arnoux J, Boyer O, Brassier A, et al
. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. Hum Pathol. 2017;62:160-169 pubmed publisher
..Renal biopsy is particularly relevant in LPI presenting with glomerular symptoms for which variable histological lesions can be responsible, implying specific treatment and follow-up. ..
Habarou F, Bahi Buisson N, Lebigot E, Pontoizeau C, Abi Warde M, Brassier A, et al
. Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency. JIMD Rep. 2018;38:53-59 pubmed publisher
..3-hydroxybutyrate may be an adjuvant treatment to ketogenic diet in PDHD but not in GLUT1-DS under basal metabolic conditions. Nevertheless, ketogenic diet is still necessary in PDHD patients during febrile illness. ..
Habarou F, Hamel Y, Haack T, Feichtinger R, Lebigot E, Marquardt I, et al
. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet. 2017;101:283-290 pubmed publisher
..Lipoic acid supplementation did not improve clinical condition nor activities of PDHc, ?-KGDHc, or leucine metabolism in fibroblasts and was ineffective in yeast deleted for the orthologous LIP2. ..
Tosserams A, Papadopoulos C, Jardel C, Lemière I, Romero N, de Lonlay P, et al
. Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. Mitochondrion. 2018;39:26-29 pubmed publisher
..The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular analysis in adults with exercise intolerance associated with hyperlactatemia. ..
Abi Warde M, Roda C, Arnoux J, Servais A, Habarou F, Brassier A, et al
. Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. J Inherit Metab Dis. 2017;40:783-792 pubmed publisher
..Psychological care was associated with age and number of decompensations. In addition, parental involvement appeared to be crucial in the management of MSUD patients. ..