Associate Professor Kevin Carpenter

PhD, FFSc(RCPA), FHGSA
Associate Professor
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3123
Fax +61 2 98453121

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Selected grants

2014

  • Development of a novel hybrid rAAV/transposon gene delivery system for life-long correction of metabolic liver disease in infants and children; Alexander I, Nagy A, Carpenter K; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • In vivo gene transfer and phenotype correction of normal and urea-cycle deficient primary human hepatocytes in chimeric mouse-human livers: Towards gene therapy for metabolic liver disease; Alexander I, Braet F, Christodoulou J, Kuchel P, Carpenter K; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

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Book Chapters

  • Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013). A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine. In Garry Brown, Eva Morava (Eds.), JIMD Reports Case and Research Reports, 2012/5, (pp. 11-15). Heidelberg: Springer.
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/2, (pp. 1-6). Heidelberg: Springer.

Journals

  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]
  • Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013). A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine. JIMD Reports - Case and Research Reports, 8, 11-15.
  • Cunningham, S., Kok, C., Spinoulas, A., Carpenter, K., Alexander, I. (2013). AAV-encoded OTC activity persisting to adulthood following delivery to newborn spfash mice is insufficient to prevent shRNA-induced hyperammonaemia. Gene Therapy, 20(12), 1184-1187. [More Information]
  • Kok, C., Cunningham, S., Carpenter, K., Dane, A., Siew, S., Logan, G., Kuchel, P., Alexander, I. (2013). Adeno-associated Virus-mediated Rescue of Neonatal Lethality in Argininosuccinate Synthetase-deficient Mice. Molecular Therapy, 21(10), 1823-1831. [More Information]
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. JIMD Reports - Case and Research Reports, 5, 1-6.
  • Patrinos, G., Smith, T., Howard, H., Al-Mulla, F., Chouchane, L., Hadjisavvas, A., Hamed, S., Li, X., Mara�?e, M., Ramesar, R., Carpenter, K., et al (2012). Human Variome Project Country Nodes: Documenting Genetic Information within a Country. Human Mutation, 33(11), 1513-1519. [More Information]
  • Alodaib, A., Carpenter, K., Wiley, V., Sim, K., Christodoulou, J., Wilcken, B. (2011). An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Annals of clinical biochemistry, 48(5), 468-470. [More Information]
  • Cunningham, S., Kok, C., Dane, A., Carpenter, K., Kizana, E., Kuchel, P., Alexander, I. (2011). Induction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery. Molecular Therapy, 19(5), 854-859. [More Information]
  • Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K., Carpenter, K., Olsen, R., Mitchell, J., Rhead, W., Peters, G., Christodoulou, J. (2011). Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B. Human Mutation, 32(1), E1976-E1984. [More Information]
  • Cunningham, S., Spinoulas, A., Carpenter, K., Wilcken, B., Kuchel, P., Alexander, I. (2009). AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice. Molecular Therapy, 17(8), 1340-1346. [More Information]
  • Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009). Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease (JIMD), Short Report #166 - online, 1-11. [More Information]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]
  • Cunningham, S., Zoccai, G., Spinoulas, A., Carpenter, K., Alexander, I. (2009). In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver. Gene Therapy, 16(6), 820-823. [More Information]
  • Bruce, C., Hoy, A., Turner, N., Watt, M., Allen, T., Carpenter, K., Cooney, G., Febbraio, M., Kraegen, E. (2009). Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance. Diabetes, 58(3), 550-558. [More Information]
  • Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008). Glutaric aciduria type I: outcome following detection by newborn screening. Journal of Inherited Metabolic Disease (JIMD), 31(4), 503-507. [More Information]
  • Gunja, N., Doyle, E., Carpenter, K., Chan, O., Gilmore, S., Browne, G. (2007). gamma-Hydroxybutyrate poisoning from toy beads. Medical Journal of Australia, 188, 54-5. [More Information]
  • Chiong, M., Carpenter, K., Christodoulou, J. (2007). Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report. Journal of Inherited Metabolic Disease (JIMD), 30(3), 405-405. [More Information]
  • Tan, E., Wiley, V., Carpenter, K., Wilcken, B. (2007). Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Molecular Genetics and Metabolism, 90(4), 446-448. [More Information]
  • Chiong, M., Sim, K., Carpenter, K., Rhead, W., Ho, G., Olsen, R., Christodoulou, J. (2007). Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular Genetics and Metabolism, 92(39479), 109-114. [More Information]
  • Waddell, L., Wiley, V., Carpenter, K., Bennetts, B., Angel, L., Andresen, B., Wilcken, B. (2006). Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Molecular Genetics and Metabolism, 87(1), 32-39. [More Information]
  • Bhattacharya, K., Khalili, V., Wiley, V., Carpenter, K., Wilcken, B. (2006). Newborn screening may fail to identify intermediate forms of maple syrup urine disease. Journal of Inherited Metabolic Disease (JIMD), 29(4), 586-586. [More Information]
  • Maclean, K., Rasiah, V., Kirk, E., Carpenter, K., Cooper, S., Lui, K., Oei, J. (2005). Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Acta Paediatrica: Nurturing the Child, 94(1), 114-116. [More Information]
  • Clarke, N., Andrews, P., Carpenter, K., Jakobs, C., van der Knaap, M., Kirk, E. (2003). D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. American Journal of Medical Genetics. Part A, 120(4), 523-527.
  • Wiley, V., Carpenter, K., Bennetts, B., Wilcken, B. (2003). Information overload - new technologies, can we store the data? Southeast Asian Journal of Tropical Medicine and Public Health, 34(S3), 59-62.
  • Wiley, V., Carpenter, K., Bayliss, U., Wilcken, B. (2003). Newborn screening - is it really that simple? Southeast Asian Journal of Tropical Medicine and Public Health, 34(S3), 107-110.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders. Metabolism: clinical and experimental, 51(3), 366-371.
  • Wilcken, B., Carpenter, K., Wiley, V. (2002). Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. The Lancet (North American Edition), 359(9306), 627-628.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Quantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. Molecular Genetics and Metabolism, 76(4), 327-334.
  • Carpenter, K., Wilcken, B., Christodoulou, J., Thorburn, D. (2000). Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis. Journal of Inherited Metabolic Disease (JIMD), 23(8), 845-846.

2014

  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]

2013

  • Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013). A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine. JIMD Reports - Case and Research Reports, 8, 11-15.
  • Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013). A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine. In Garry Brown, Eva Morava (Eds.), JIMD Reports Case and Research Reports, 2012/5, (pp. 11-15). Heidelberg: Springer.
  • Cunningham, S., Kok, C., Spinoulas, A., Carpenter, K., Alexander, I. (2013). AAV-encoded OTC activity persisting to adulthood following delivery to newborn spfash mice is insufficient to prevent shRNA-induced hyperammonaemia. Gene Therapy, 20(12), 1184-1187. [More Information]
  • Kok, C., Cunningham, S., Carpenter, K., Dane, A., Siew, S., Logan, G., Kuchel, P., Alexander, I. (2013). Adeno-associated Virus-mediated Rescue of Neonatal Lethality in Argininosuccinate Synthetase-deficient Mice. Molecular Therapy, 21(10), 1823-1831. [More Information]

2012

  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. JIMD Reports - Case and Research Reports, 5, 1-6.
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/2, (pp. 1-6). Heidelberg: Springer.
  • Patrinos, G., Smith, T., Howard, H., Al-Mulla, F., Chouchane, L., Hadjisavvas, A., Hamed, S., Li, X., Mara�?e, M., Ramesar, R., Carpenter, K., et al (2012). Human Variome Project Country Nodes: Documenting Genetic Information within a Country. Human Mutation, 33(11), 1513-1519. [More Information]

2011

  • Alodaib, A., Carpenter, K., Wiley, V., Sim, K., Christodoulou, J., Wilcken, B. (2011). An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Annals of clinical biochemistry, 48(5), 468-470. [More Information]
  • Cunningham, S., Kok, C., Dane, A., Carpenter, K., Kizana, E., Kuchel, P., Alexander, I. (2011). Induction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery. Molecular Therapy, 19(5), 854-859. [More Information]
  • Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K., Carpenter, K., Olsen, R., Mitchell, J., Rhead, W., Peters, G., Christodoulou, J. (2011). Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B. Human Mutation, 32(1), E1976-E1984. [More Information]

2009

  • Cunningham, S., Spinoulas, A., Carpenter, K., Wilcken, B., Kuchel, P., Alexander, I. (2009). AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice. Molecular Therapy, 17(8), 1340-1346. [More Information]
  • Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009). Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease (JIMD), Short Report #166 - online, 1-11. [More Information]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]
  • Cunningham, S., Zoccai, G., Spinoulas, A., Carpenter, K., Alexander, I. (2009). In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver. Gene Therapy, 16(6), 820-823. [More Information]
  • Bruce, C., Hoy, A., Turner, N., Watt, M., Allen, T., Carpenter, K., Cooney, G., Febbraio, M., Kraegen, E. (2009). Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance. Diabetes, 58(3), 550-558. [More Information]

2008

  • Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008). Glutaric aciduria type I: outcome following detection by newborn screening. Journal of Inherited Metabolic Disease (JIMD), 31(4), 503-507. [More Information]

2007

  • Gunja, N., Doyle, E., Carpenter, K., Chan, O., Gilmore, S., Browne, G. (2007). gamma-Hydroxybutyrate poisoning from toy beads. Medical Journal of Australia, 188, 54-5. [More Information]
  • Chiong, M., Carpenter, K., Christodoulou, J. (2007). Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report. Journal of Inherited Metabolic Disease (JIMD), 30(3), 405-405. [More Information]
  • Tan, E., Wiley, V., Carpenter, K., Wilcken, B. (2007). Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Molecular Genetics and Metabolism, 90(4), 446-448. [More Information]
  • Chiong, M., Sim, K., Carpenter, K., Rhead, W., Ho, G., Olsen, R., Christodoulou, J. (2007). Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular Genetics and Metabolism, 92(39479), 109-114. [More Information]

2006

  • Waddell, L., Wiley, V., Carpenter, K., Bennetts, B., Angel, L., Andresen, B., Wilcken, B. (2006). Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Molecular Genetics and Metabolism, 87(1), 32-39. [More Information]
  • Bhattacharya, K., Khalili, V., Wiley, V., Carpenter, K., Wilcken, B. (2006). Newborn screening may fail to identify intermediate forms of maple syrup urine disease. Journal of Inherited Metabolic Disease (JIMD), 29(4), 586-586. [More Information]

2005

  • Maclean, K., Rasiah, V., Kirk, E., Carpenter, K., Cooper, S., Lui, K., Oei, J. (2005). Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Acta Paediatrica: Nurturing the Child, 94(1), 114-116. [More Information]

2003

  • Clarke, N., Andrews, P., Carpenter, K., Jakobs, C., van der Knaap, M., Kirk, E. (2003). D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. American Journal of Medical Genetics. Part A, 120(4), 523-527.
  • Wiley, V., Carpenter, K., Bennetts, B., Wilcken, B. (2003). Information overload - new technologies, can we store the data? Southeast Asian Journal of Tropical Medicine and Public Health, 34(S3), 59-62.
  • Wiley, V., Carpenter, K., Bayliss, U., Wilcken, B. (2003). Newborn screening - is it really that simple? Southeast Asian Journal of Tropical Medicine and Public Health, 34(S3), 107-110.

2002

  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders. Metabolism: clinical and experimental, 51(3), 366-371.
  • Wilcken, B., Carpenter, K., Wiley, V. (2002). Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. The Lancet (North American Edition), 359(9306), 627-628.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Quantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. Molecular Genetics and Metabolism, 76(4), 327-334.

2000

  • Carpenter, K., Wilcken, B., Christodoulou, J., Thorburn, D. (2000). Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis. Journal of Inherited Metabolic Disease (JIMD), 23(8), 845-846.

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