Metabolic Medicine

*暫時只提供英文內容

Researchers

• Dr FUNG Cheuk-wing, Consultant (ORCID)
• Dr Anne KWOK Mei-kwun, Associate Consultant (ORCID)
• Dr BELARAMANI Kiran, Associate Consultant (ORCID)
• Dr Helen WU Huijun, Resident Specialist (ORCID)
• Dr Terry LAW Hiu Fung, Resident Specialist (ORCID)

Research Areas

• Novel diagnostic strategies in undiagnosed inherited metabolic disorders (IMD), including trans-omics analysis
• Novel biomarkers in IMD
• Precision medicine and novel treatment in IMD, e.g. mitochondrial diseases, glycogen storage diseases, citrin deficiency
• Newborn screening, including public attitudes and ethics

▲ Patient's fibroblasts in the incubator for analyses, including protein expression, drug screening, etc

▲ Using ELISA to measure biomarkers level

▲ Frozen sectioning for microscopic examination

▲ Immunofluorescence to visualize cells' morphology, localization and expression

Selected Publications

• Wong SW, Fung CW, Tomlin F, Stojanovic J. Kidney transplantation in mitochondrial diseases: a systematic review. Pediatr Nephrol. Published online November 27, 2025. doi:10.1007/s00467-025-07034-3
• Averdunk L, Wang H, Hoytema van Konijnenburg EMM, Kwok AM, et al. YARS1 Deficiency. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; July 3, 2025.
• Wong TS, Man E, Wong ICK, Belaramani KM, Kwok AMK, Fung CW, et al. Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases. Orphanet J Rare Dis. 2025;20(1):283. Published 2025 Jun 6. doi:10.1186/s13023-025-03795-0
• Chui MM, Kwong AK, Leung HYC, Fung CW, et al. An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis. NPJ Genom Med. 2025;10(1):36. Published 2025 May 3. doi:10.1038/s41525-025-00493-5
• Ivaniuk A, Anselm IA, Bowen A, Fung CW, Belaramani K, Kwok AM, Law H, Wu H, et al. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025;104(4):e209779. doi:10.1212/WNL.0000000000209779
• Ngan OMY, Fung CW, Kwok MK, Belaramani KM, et al. "Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture. BMC Public Health. 2024;24(1):2973. Published 2024 Oct 26. doi:10.1186/s12889-024-20365-4
• Belaramani KM, Chan TCH, Hau EWL, Kwok AMK, Law THF, Wu H, Fung CW, et al. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey. Int J Neonatal Screen. 2024;10(1):23. Published 2024 Mar 11. doi:10.3390/ijns10010023
• Chan TCH, Mak CM, Yeung MCW, Fung CW, Belaramani KM, Kwok AMK, et al. Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism. Int J Neonatal Screen. 2024;10(1):19. Published 2024 Mar 5. doi:10.3390/ijns10010019
• Wong TS, Belaramani KM, Chan CK, Kwok MA, Fung CW, et al. Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape. Orphanet J Rare Dis. 2023;18(1):43. Published 2023 Mar 2. doi:10.1186/s13023-023-02632-6
• Ryder B, Inbar-Feigenberg M, Glamuzina E, Belaramani K, et al. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. J Inherit Metab Dis. 2021;44(4):903-915. doi:10.1002/jimd.12371