Dr. Choy Yew Sing

Consultant Geneticist/Metabolic Physician/Pediatrician

Prince Court Medical Centre
Subang Jaya Medical Centre

No 23, Jalan BU1/10, Bandar Utama 47800 Petaling Jaya, Malaysia.

• Genetics of Mental Retardation and Epilepsy
• Inborn Errors of Metabolism
• General Paediatrics- Pneumonia, Gastroenteritis Autism

• Choy Y.S. & Sinniah. ( 1992 ) Syringomyelia/syringobulbia presenting as Anhidrosis. Malaysian Journal of Child Health. 4(1):6-12
• Choy Y.S., D. Sinniah. (1995) Medicine in Malaysia: Pediatrics. Medical Journal Malaysia 50:S65-68
• Choy Y.S., Tan C.T. Omar A. (1995)A study on genetic aspect of Benign Rolandic Epilepsy. Epilepsia S28-29
• Choy Y.S., Lim C.T. (1995) Poland syndrome – a case report. Malaysian Journal of Child Health 7(2): 60-64
• Lum L.C.S., Choy Y.S., Lam S.K., George R. Harun F. (1996) Dengue Encephalitis: A true entity? American Journal of Tropical Medicine and Hygiene. 54(3): 256-259. DOI: https://doi.org/10.4269/ajtmh.1996.54.256
• Choy Y.S., Kassim M.S. (1996) Unusual Presentation of Dengue Haemorrhagic Fever. Malaysian Journal of Child Health. 8 (1):72-79
• Choy Y.S., Korf B., Lang P. Trisomy 21 and Translocation 1q32-12q34 associated with ectrodactyly- a case report : Genetics in Medicine ( in press )
• Choy Y.S., Deborah S., Hall F., Niida, Franz D. Joswiak S., Kwiatkowski D. (1999) Superiority of DHPLC over SSCP for mutation detection in TSC2. Annales of Human Genetics.63(Pt5):383-391. https://doi.org/10.1046/j.1469-1809.1999.6350383.x
• Choy Y.S., Poussaint T., Thiele E. (2001) Neuroradiological features of brain tumours in tuberous sclerosis. Journal of Child Neurology ( in press )
• Dabora S., Jozwiak S., Choy YS et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates severity of TSC2 compared with TSC1 disease in multiple organs. American Journal of Human Geneitcs. 68(1):64-80.
• Choy YS. Tan S.K. et al (2001) A contiguous gene syndrome in an infant with both cleidocranial dysplasia and CHAR syndrome due to deletion 6p21.2-p11.2. American Journal of Human Genetics. 69(4): S315
• Ahmad MU. Choy YS et al (2001) Dilated cardiomyopathy in two infants with Prader willi syndrome and cytogenetically visible microdeletion of 15q11-q14. American Journal of Human Genetics. 69(4): S 283
• Tan S.K., Choy YS. et al. (2001)Delineation of phenotype resulting from an unbalanced complex chromosomal rearrangement t(6,; 15; 7)(p11.2; q26.1; p15.3). American Journal of Human Genetics. 69(4): S325
• Balraj P, Choy YS. et al (2001) Mutational analysis of BRCA1 in familial breast cancer in Malaysia. American Journal of Human Genetics. 69(4): S437
• MK Thong, YS Choy (2001) Inborn Errors of Metabolism [Review]. Malaysian Journal of Child Health. 13(1):19-26
• YS Choy et al (2002) Methylmalonic acidemia – associated birth defects and atypical presentations. Journal of Inherited Metabolic Disease. 25(Suppl 1) S47.
• YS Choy et al (2002) Variable presentations and manifestations of MELAS syndrome. Journal of Inherited Metabolic Disease.25(Suppl) S82
• YS Choy et al (2002) Life threatening events and severe manifestations of Prader willi syndrome. American Journal of Human Genetics. 71(4):S263
• SK Tan, YS Choy et al (2002) Distal Xp deletion associated with unbalanced X-rearrangement in patients with dysmorphism, short stature and Leri-Weill dysochondrosteosis. American Journal of human Genetics 71(4): S302
• YS Choy, Haifa et al (2003) 22q11 deletions in Conutruncal cardiac defects. American Journal of Human Genetics. Vol 73(5): 572
• Ngu LH, YS Choy et al (2003) High dose Coenzyme therapy in MELAS syndrome. American Journal of Human Genetics. Vol 73(5):462
• CB Lim, YS Choy et al (2003) Morbidity in Alagille disease in 6 Malaysian Children. Malaysian Medical Journal Vol(58): No5, Pg. 641-646
• Choy YS, Ngu LH et al (2004) Natural history and therapeutic trial of coenzyme Q, carnitine and vitamins in children with ethylmalonic encephalopathy. Journal of Inherited Metabolic Disease Vol 27 (Suppl 1) Pg 91
• Ngu LH, Choy YS, Keng WT et al (2004) Variable Phenotype among children with 3-hydroxyisobutyric acidemia. Journal of Inherited Metabolic Disease Vol 27 (Suppl 1) Pg 79
• Haifa, Choy YS et al (2005) Chromosome 22q11 deletion in conutrunchal cardiac defects and its impact on early surgical outcome. IJN Proceedings No.6: 20-25
• Choy YS, Ngu LH et al (2005) Favourable response to BH4 despite delayed therapy in sever 6-pyruvoyl tetrahydrobiopterin synthsae deficiency. Journal of Inherited Metabolic Diseases (Suppl. 1) Pg34
• Keng WT, Choy YS et al (2005) Autistic spectrum disorder: an atypical presentation of non-ketotic hyperglycinemia and maple syrup urine disease. Journal of Inherited Metabolic Diseases (Suppl. 1) Pg52
• Ngu LH, Choy Ys et al (2005) Beta-ketothiolase deficiency: an unusual non-episodic chronic neurological deficit in three patients.Journal of Inherited Metabolic Diseases (Suppl. 1) Pg.89
• L. Brun, YS Choy et al (2010) Clinical and biochemical features of L-aromatic amino acid decarboxylase deficieny. Neurology 75, July 6 2010, Pg 64-71
• Yew Sing Choy, Zabedah Mohd Yunus. Variable Manifestations and Oucome of Glutarix Aciduria type I – a cohort of patients from Malaysia, Journal of Japanese Society of Inherited Metabolic Disease, Vol 27, No.1 2011, 137-145
• Balasubramaniam S., Choy Y.S., Talib A., Norsiah M.D., van den Heuvel L.P., Rodenburg R.J. (2011) Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. In: SSIEM (eds) JIMD Reports - Case and Research Reports, 2012/2. JIMD Reports, vol 5, Pg. 113-122.
• Yew Sing Choy et al. Identifying the need for a multidisciplinary approach for early recognition of MPS VI. Molecular Genetics and Metabolism (2015) Volume 115, Issue 1, May 2015, Pages 41-47. https://doi.org/10.1016/j.ymgme.2015.03.005
• K. Bhattarchaya, S. Subramaniam, Y.S.Choy et al. Overcoming the barriers to diagnosis of Morquio A syndrome. Orphanet J Rare Dis 9, 192.(2014). https://doi.org/10.1186/s13023-014-0192-7
• Zabedah Yunus, Salina Abdu; Rahman, Yew Sing Choy. Pilot study of newborn screening for inborn errors of metabolism using tandem mass spectrometry in Malaysia, outcome and challenges. Journal of Endocrinology and Metabolism, Vol 29, Issue 9 Pg 1031–1039,https://doi.org/10.1515/jpem-2016-0028.
• Yunus Z.M., Kamaludin D.A., Mamat M., Choy Y.S., Ngu L. (2011) Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children. In: SSIEM (eds) JIMD Reports - Case and Research Reports, 2012/2 Pg. 99-107.
• J. Jak, YS Choy et al ASSP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death & Differentiation. Volume 23, pages1973–1984(2016).https://doi.org/10.1038/cdd.2016.76
• Nastassja Himmelreich, Yew Sing Choy et al. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein Changes. Molecular Genetics and Metabolism.139 (2023) 107624
• Nastassja Himmelreich, Yew Sing Choy et al. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7.
• Lu Liu, Yew Sing Choy, John McGrath et al. Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa. J Dermatol Sci. 2006, Oct;44(1):48-51. doi: 10.1016/j.jdermsci.2006.05.009. Epub 2006 Jun 30.

• Y.S.Choy, C.T.Tan and Asma Omar. Families with benign childhood epilepsy with centro-temporal spikes. (Chapter 5.) in Genetics of Focal Epilepsy: Clinical aspects and Molecular Biology. S.F. Berkovic, P. Genton, E.Hirsch, F.Picard (1999) John Libbey & Comp. Ltd. Pg.43-56
• General Approach to Inborn Errors of Metabolism (Chapter 71) Pg 410
• Algorithm for the sick infant (Chapter 72) Pg 416
• Approach to hyperammonemia (Chapter 73) Pg 419
• Approach to hypoglycemia (Chapter 74) Pg 423
• Approach to metabolic acidosis (Chapter 75) Pg 426 in Paediatric Protocols for Malaysian Hospitals ( 1st edition, 2005)
• Textbook of Clinical Pediatrics- Principles & Practice, Volume I and Volume 2, Dr. Lee EL & Dr. Choy YS

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