Metabolism refers to the handling of biochemical compounds in the body, such as the breakdown, transport, storage and synthesis of fats, proteins and carbohydrates as well as the production of energy from food components. Inherited metabolic disorders (IMD) affect approximately one in 2000 children. Severe metabolic disorders can cause impaired physical or cognitive development, neurodegenerative disease and other disabilities, and death in infants or children. The Metabolic Research group aims to enhance the understanding of the natural history of inherited metabolic disorders and improve diagnosis and treatment of these diseases.
The group focuses on patient-oriented research projects. These include improved diagnostic methodology, better understanding of the natural history of metabolic diseases and detailed dietary analysis of protein and energy intakes of patients with these disorders to assess the effect on individuals’ growth and development. This research is already being implemented in diagnoses and will allow practitioners to better predict patients’ clinical outcomes. The team’s research will lead to evidence-based dietary therapy for patients with inherited metabolic disorders.
The natural history and clinical outcomes of patients with inherited metabolic disorders.
This project aims to develop a better understanding of these disorders and provide information that will be reported to parents. It is hoped it will serve as an important step towards devising evidence-based therapies.
Improving the laboratory diagnosis of inborn errors of metabolism.
The group is using mass spectrometry, a powerful technique for the identification and analysis of a wide range of biomarkers, to identify new biomarkers and to develop novel, rapid screening methods for urine and blood samples from children with suspected metabolic disorders.
Understanding the relationship between protein to energy intake in establishing optimal metabolic control, growth and development of children with inherited metabolic diseases.
This research will lead to the development of evidence-based safe and optimal diets to prescribe to children with inherited metabolic diseases.
The neuropsychological outcome of patients with inborn errors of metabolism.
- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. 2018
- Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. 2018
- A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 2017
- The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. 2017
- Unravelling the metabolic impact of SBS-associated microbial dysbiosis: Insights from the piglet short bowel syndrome model. 2017
- ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 2016
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. 2016
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 2016
- VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 2016
- A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. 2015
- An audit of newborn screening procedure: impact on infants presenting clinically before results are available. 2015
- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. 2015
- Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 2015
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 2015
- Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 2015
- Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series. 2015
- Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. 2015
- Pyridoxine responsiveness in novel mutations of the PNPO gene. 2015
- Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism. 2015
- Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment. 2015
- 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3. 2014
- Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening. 2014
- Clinical presentation and outcome in a series of 88 patients with the cblC defect. 2014
- Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: value of early diagnosis and treatment. 2014
- Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector. 2014
- Dietary protein in urea cycle defects: How much? Which? How? 2014
- ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 2014
- First trimester detection of trisomy 16 using combined biochemical and ultrasound screening. 2014
- Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. 2014
- Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood. 2014
- New ways of defining protein and energy relationships in inborn errors of metabolism. 2014
- Screening for cerebrotendinous xanthomatosis. 2014
- ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings. 2013
- Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation. 2013
- Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 2013
- Histopathological findings in livers of patients with urea cycle disorders. 2013
- Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. 2013
- Implementation of written consent for newborn screening in Victoria, Australia. 2013
- Linear Growth of Children on a Ketogenic Diet: Does the Protein-to-Energy Ratio Matter? 2013
- Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes 2013
- Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 2013
- Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families. 2013
- Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. 2013
- Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. 2013
- Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 2013
- A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. 2012
- Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus. 2012
- Early clinical manifestations and eating patterns in patients with urea cycle disorders. 2012
- Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model. 2012
- Going back to the future with Guthrie-powered epigenome-wide association studies. 2012
- Mouse models for methylmalonic aciduria. 2012
- Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism. 2012
- Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. 2012
- Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. 2012
- Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. 2012
- Treatment of a Methylmalonyl-CoA mutase stopcodon mutation. 2012
- Alpers syndrome with mutations in POLG: Clinical and investigative features 2011
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project 2011
- Diagnosis and management of glutaric aciduria type I - revised recommendations 2011
- Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients. 2011
- Professor Vicki Anderson, Critical Care and Neurosciences Theme, Murdoch Children's Research Institute
- Professor Helen Truby, Department of Nutrition and Dietetics, Monash University