Uta Lichter-Konecki, M.D., Ph.D.

  • Professor of Pediatrics
  • Director, Inborn Errors of Metabolism Clinic

Major Lectureships and Seminars

  • Grand rounds speaker, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pa., October 2016 
  • Fellow lecturer, Pediatric Intensive Care Unit (ICU), UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pa., October 2016 
  • Fellow lecturer, Neonatal ICU, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pa., October 2016 

Study Sections

  • Research grant reviewer, Scienti c Advisory Board, National PKU Alliance, 2011 to the present 
  • Research grant reviewer, U.S.–Israel Binational Science Foundation, 2011 to the present 
  • Research grant reviewer, Raine Medical Research Foundation at the University of Western Australia, 2011 to the present 

Advisory Committee Memberships

  • Metabolism Work Group, Clinical Genome (ClinGen) Resource Program 
  • Ad Hoc Review Committee, reviewing staff clinicians of the Medical Genetics Branch of the National Human Genome Research Institute, NIH 
  • Scientific Advisory Board, National PKU Alliance Therapeutics Committee 
  • Consultant regarding new product development for PKU and UCD, Sano 

Education & Training

  • MD: Ruprecht Karl University of Heidelberg Heidelberg, Germany
  • Residency: National Institutes of Health Bethesda, MD
  • Residency: University Children's Hospital Heidelberg, Germany

Research Interests

Dr. Lichter-Konecki has a longtime clinical and research interest in inborn errors of metabolism, beginning with her early clinical and laboratory training. She is an internationally recognized expert in the molecular genetics of PKU. She has published groundbreaking work in the molecular characterization of PKU, including the first description of a mutation in the PAH gene causing PKU, and she helped establish the molecular basis for the phenotypic heterogeneity of PKU, a novel genetic property that ultimately became known as genotype-phenotype correlation. In addition to her seminal research in the laboratory, Dr. Lichter-Konecki was a member of the multicenter German Collaborative Study on PKU, as well as a member of the international Maternal PKU Study. 

Dr. Lichter-Konecki’s strongest research interest remains the pathophysiology of the brain injury caused by inborn errors of metabolism, whether PKU or urea cycle disorder (UCD). Focusing on an animal model of ornithine transcarbamylase deficiency, a UCD, as well as the patients enrolled in the longitudinal study of UCD, she has examined the role of ammonia and the amino acid glutamine as the toxic agents in UCD. In the culmination of her animal experiments, she was able to show that the primary pathophysiology in acute hyperammonemic encephalopathy was likely a disturbance of astrocytemediated water and potassium homeostasis in brain, a major shift in a field previously focused on glutamine-induced hyperosmolality. The findings hold the potential key to developing neuroprotective therapies for acute hyperammonemia in patients with inborn errors of metabolism and hepatic encephalopathy of other causes. Dr. Lichter-Konecki has conducted a multicenter pilot study that demonstrated feasibility and safety of hypothermia treatment in acute hyperammonemia, and she has obtained an R34 planning grant from the National Institute of Child Health and Human Development to plan for a large multicenter clinical trial and build consensus regarding treatment during the trial across four different pediatric subspecialties at the 30 sites involved. 

The planning phase was completed successfully, but the trial was not funded by the NIH. She is now focusing her efforts regarding neuroprotection in hyperammonemia on drugs that can affect water and potassium homeostasis in brain and is collaborating with a researcher that performs drug screens in hyperammonemic zebra fish to take the best candidates and test them in a new mouse model for acute hyperammonemic encephalopathy (from the same collaborator) due to a UCD. On the clinical research side, she is completing analysis of data collected during the longitudinal study for UCD to show the effect of ammonia and glutamine on outcomes in UCD. 

She is a co-investigator on an R01 grant to develop a point of care PHE meter for patients with PKU, and is a co-investigator on many of the division’s industry-sponsored clinical trials regarding inborn errors of metabolism. 

Dr. Lichter-Konecki studies lysosomal storage diseases. She participated in the hunt for the gene responsible for cystinosis and mapped the locus for an autosomal dominant form of renal Fanconi syndrome (ADRFS) in the human genome. She has an ongoing collaboration with colleagues in the United States and Europe regarding the pathophysiology of the gene defect in ADRFS, and the group is in the process of publishing their work. 

Lichter-Konecki’s strongest research interest remains the pathophysiology of the brain injury caused by inborn errors of metabolism, whether PKU or urea cycle disorder (UCD). Focusing on an animal model of ornithine transcarbamylase deficiency, a UCD, as well as the patients enrolled in the longitudinal study of UCD, she has examined the role of ammonia and the amino acid glutamine as the toxic agents in UCD. In the culmination of her animal experiments, she was able to show that the primary pathophysiology in acute hyperammonemic encephalopathy was likely a disturbance of astrocyte-mediated water and potassium homeostasis in the brain, a major shift in a field previously focused on glutamine-induced hyperosmolality. The findings hold the potential key to developing neuroprotective therapies for acute hyperammonemia in patients with inborn errors of metabolism and hepatic encephalopathy of other causes. Lichter-Konecki has conducted a multicenter pilot study that demonstrated feasibility and safety of hypothermia treatment in acute hyperammonemia, and she has obtained an R34 planning grant from the National Institute of Child Health and Human Development to plan for a large multicenter clinical trial and build consensus regarding treatment during the trial across four different pediatric subspecialties at the 30 sites involved. The planning phase was completed successfully, but the trial was not funded by the NIH. She is now focusing her efforts regarding neuroprotection in hyperammonemia on drugs that can affect water and potassium homeostasis in brain and is collaborating with a researcher that performs drug screens in hyperammonemic zebra sh to take the best candidates and test them in a new mouse model for acute hyperammonemic encephalopathy (from the same collaborator) due to a UCD. On the clinical research side, she is completing analysis of data collected during the longitudinal study for UCD to show the effect of ammonia and glutamine on outcomes in UCD. 

She is a co-investigator on the R01 grant for the PHE meter and is working on that clinical research project, too, as well as on the division’s industry-sponsored clinical trials regarding inborn errors of metabolism.

Lichter-Konecki studies lysosomal storage diseases. She participated in the hunt for the gene responsible for cystinosis and mapped the locus for an autosomal dominant form of renal Fanconi syndrome (ADRFS) in the human genome. She has an ongoing collaboration with colleagues in the United States and Europe regarding the pathophysiology of the gene defect in ADRFS, and the group is in the process of publishing their work.

Division