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» Authors » Beena Devanapalli

Beena Devanapalli

Explore the profile of Beena Devanapalli including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 57
Followers 0
Related Specialties
General Medicine
Genetics
Biochemistry
Top 10 Co-Authors
Adviye Ayper Tolun
Kaustuv Bhattacharya
Bindu Parayil Sankaran
Michel Tchan
Ashley Hertzog
Francesca Moore
Troy Dalkeith
Sue Thompson
Gladys Ho
Yusof Rahman
Published In
Orphanet J Rare Dis
Clin Chim Acta
J Inherit Metab Dis
Nutrients
Hum Gene Ther
Affiliations
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Recent Articles
1.
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies
Cunningham S, van Dijk E, Zhu E, Sugden M, Mandwie M, Siew S, et al.
Hum Gene Ther . 2023 Jun; 34(17-18):917-926. PMID: 37350098
Realization of the immense therapeutic potential of epigenetic editing requires development of clinically predictive model systems that faithfully recapitulate relevant aspects of the target disease pathophysiology. In female patients with...
2.
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach
Wong R, Mohammad S, Parayil Sankaran B, Junek R, Kim W, Wotton T, et al.
Brain Dev . 2023 May; 45(9):523-531. PMID: 37156708
Background: Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic pathogenic variants in DNAJC12, co-chaperone of phenylalanine, tyrosine, and tryptophan hydroxylases,...
3.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
Evesson F, Dziaduch G, Bryen S, Moore F, Pittman S, Devanapalli B, et al.
Hum Mol Genet . 2023 Mar; 32(12):2084-2092. PMID: 36920481
Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected individuals from 15 families. Here, we describe two female probands from unrelated families presenting with...
4.
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, et al.
Nutrients . 2023 Feb; 15(3). PMID: 36771238
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and...
5.
A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism
Hertzog A, Selvanathan A, Devanapalli B, Ho G, Bhattacharya K, Tolun A
Transl Pediatr . 2022 Nov; 11(10):1704-1716. PMID: 36345452
Background And Objective: Traditional targeted metabolomic investigations identify a pre-defined list of analytes in samples and have been widely used for decades in the diagnosis and monitoring of inborn errors...
6.
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
Parayil Sankaran B, Gupta S, Tchan M, Devanapalli B, Rahman Y, Procopis P, et al.
Orphanet J Rare Dis . 2021 Nov; 16(1):465. PMID: 34732213
Background: Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in...
7.
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Sajeev M, Chin S, Ho G, Bennetts B, Parayil Sankaran B, Gutierrez B, et al.
Int J Neonatal Screen . 2021 Jun; 7(2). PMID: 34069211
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in , , or genes result...
8.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, et al.
J Inherit Metab Dis . 2021 Feb; 44(4):903-915. PMID: 33634872
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia,...
9.
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
Bhattacharya K, Matar W, Tolun A, Devanapalli B, Thompson S, Dalkeith T, et al.
Orphanet J Rare Dis . 2020 Feb; 15(1):53. PMID: 32070364
Background: Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use...
10.
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84
Montgomery M, Osborne B, Brandon A, OReilly L, Fiveash C, Brown S, et al.
FASEB J . 2019 Aug; 33(11):12264-12276. PMID: 31415180
Fatty acid receptors have been recognized as important players in glycaemic control. This study is the first to describe a role for the medium-chain fatty acid (MCFA) receptor G-protein-coupled receptor...