S
Shanti Balasubramaniam
Researcher at Children's Hospital at Westmead
Publications - 37
Citations - 718
Shanti Balasubramaniam is an academic researcher from Children's Hospital at Westmead. The author has contributed to research in topics: Mitochondrial disease & Gene. The author has an hindex of 13, co-authored 31 publications receiving 539 citations. Previous affiliations of Shanti Balasubramaniam include Hospital Kuala Lumpur & Boston Children's Hospital.
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Journal ArticleDOI
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
Magnus K. Bjursell,Magnus K. Bjursell,Henk J. Blom,Jordi Asin Cayuela,Martin Engvall,Martin Engvall,Nicole Lesko,Nicole Lesko,Shanti Balasubramaniam,Göran Brandberg,Maria Halldin,Maria Falkenberg,Cornelis Jakobs,Desirée E.C. Smith,Eduard A. Struys,Ulrika von Döbeln,Ulrika von Döbeln,Claes M. Gustafsson,Joakim Lundeberg,Anna Wedell,Anna Wedell,Anna Wedell +21 more
TL;DR: ADK deficiency is a previously undescribed, severe IEM shedding light on a functional link between the methionine cycle and adenosine metabolism, and two siblings affected by severe developmental delay and liver dysfunction were studied.
Journal ArticleDOI
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Gali Heimer,Juha M. Kerätär,Lisa G. Riley,Shanti Balasubramaniam,Eran Eyal,Laura P. Pietikäinen,J. Kalervo Hiltunen,Dina Marek-Yagel,Jeffrey Hamada,Allison Gregory,Caleb Rogers,Penelope Hogarth,Martha Nance,Nechama Shalva,Alvit Veber,Michal Tzadok,Andreea Nissenkorn,Davide Tonduti,Florence Renaldo,Ichraf Kraoua,Celeste Panteghini,Lorella Valletta,Barbara Garavaglia,Mark J. Cowley,Velimir Gayevskiy,Tony Roscioli,Jonathon M. Silberstein,Chen Hoffmann,Annick Raas-Rothschild,Valeria Tiranti,Yair Anikster,John Christodoulou,Alexander J. Kastaniotis,Bruria Ben-Zeev,Susan J. Hayflick +34 more
TL;DR: The results suggest that mutations in MECR cause a distinct human disorder of the mtFAS pathway, and the observation of decreased lipoylation raises the possibility of a potential therapeutic strategy.
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Disorders of Riboflavin Metabolism
TL;DR: This review focuses on the clinical and biochemical features associated with biallelic FLAD1 mutations leading to FAD synthase deficiency, the only known primary defect in flavocoenzyme synthesis, in addition to providing an overview of clinical disorders associated with nutritional deficiency of riboflavin and primary defects of rib oflavin transport.
Journal ArticleDOI
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability
Shanti Balasubramaniam,Frank Bowling,Kevin Carpenter,Kevin Carpenter,John W. Earl,Jeffrey Chaitow,James Pitt,James Pitt,Etienne Mornet,David Sillence,David Sillence,Carolyn Ellaway,Carolyn Ellaway +12 more
TL;DR: Two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis.
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Inborn errors of pyrimidine metabolism: clinical update and therapy.
TL;DR: The ubiquitous role that pyrimidine metabolism plays in human life highlights the importance of improving diagnostic evaluation in suggestive clinical settings, which will contribute to the elucidation of new defects, future development of novel drugs and therapeutic strategies.