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Clin Chem 2019 11;65(11):1460-1462

CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France;

Mol Genet Genomic Med 2019 12 26;7(12):e1000. Epub 2019 Oct 26.

Medical Genetics, Department of Pediatrics, Université de Sherbrooke-CHUS, Sherbrooke, QC, Canada.

Background: HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is usually first suspected on finding elevated isoleucine degradation metabolites in urine, reflecting decreased MHBD activity. However, it is now known that clinical disease pathogenesis reflects other independent functions of the HSD10 protein; particularly its essential role in mitochondrial transcript processing and tRNA maturation. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):199-202

Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

Objective: To summarize the clinical, biochemical and molecular characteristics of 8 patients with beta-ketothiolase deficiency (BKD).

Methods: Clinical characteristics, biochemical markers detected by tandem mass spectrometry (MS-MS) and gas chromatography-mass spectrometry (GC-MS), and variations of ACAT1 gene of the 8 patients were reviewed.

Results: Three patients were diagnosed by newborn screening and were asymptomatic. Read More

Iran J Child Neurol 2018 ;12(3):113-121

Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical features characterized by intermittent keto acidotic episodes are associated with clinical signs and symptoms of toxic encephalopathy such as lethargy, hypotonia, vomiting, tachypnea, and coma in some patients, with an onset during infancy or toddler-hood. A two months old girl presented to pediatric ward of Imam Reza Hospital in Mashhad City, Northwestern Iran in October 2016, with acute episode of fever and toxic encephalopathy with attack of vomiting, hypotonia, lethargy, tonic-clonic seizures and then a day in coma, few days after vaccination. Read More

Mol Genet Metab Rep 2018 Sep 22;16:31-35. Epub 2018 Jun 22.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

Background: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The clinical presentation is heterogeneous, including a neurodegenerative course with retinopathy and cardiomyopathy leading to death in early childhood and a slowly progressive disease associated with learning disability and survival into adulthood. The condition is often diagnosed in childhood. Read More