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Uta Lichter-Konecki, MD, PhD

  • Professor of Pediatrics
  • Director, Metabolism Program, UPMC Children's Hospital of Pittsburgh
  • Director, Medical Biochemical Genetics Fellowship Program, UPMC Children's Hospital of Pittsburgh
  • Director, Mitochondrial Medicine Center, UPMC Children's Hospital of Pittsburgh

Administrative Assistant: Brianna Karp Sokol

Lichter-Konecki received her graduate and post-graduate medical training at the Medical Faculty of the Ruprecht-Karls University and the University Children’s Hospital in Heidelberg, Germany. The theme of her doctoral thesis was Central Nervous System Complications in Children during Cytotoxic Therapy. She obtained a training grant from the German Research Foundation to launch her academic carrier with training in molecular genetics which she received at the Max-Planck Institute for Medical Research, the European Molecular Biology Laboratory (EMBL), and Baylor College of Medicine. She is a board certified pediatrician in Germany and became a tenured associate professor (private docent) of pediatrics at the University of Heidelberg with a research program about phenylketonuria, the most common inborn error of amino acid metabolism.

After moving to the United States she completed a genetics residency and clinical biochemical genetics fellowship at the National Human Genome Research Institute of the NIH in 2003 and joined the Division of Genetics and Metabolism at Children’s National Medical Center in Washington, DC where she conducted research in urea cycle disorders and directed the metabolism program. She was promoted to Associate Professor of Pediatrics at George Washington University in 2010. Dr. Lichter-Konecki joined the Division of Genetic and Genomic Medicine as the director of the metabolism program in 2016. While she sees all patients with clinical genetic and metabolic diseases in her praxis with a primary focus on treatment of genetic diseases, she has an international reputation in urea cycle disorders and phenylketonuria, which remain her research focus.

Professional and Scientific Society Memberships

  • American College of Medical Genetics, 2013 
  • American Society of Human Genetics, 1991 
  • German Society for Pediatric and Adolescent Medicine, 1986 
  • Society for Human Genetics (German), 1990   
  • Society for Inherited Metabolic Disorders, 2001 
  • Society for Neuroscience, 2005 
  • Society for Pediatric Research, 2006 
  • Society for the Study of Inborn Errors of Metabolism, 1994 
  • Working Group for Pediatric Metabolic Disease, 1986

Education & Training

  • MD, Ruprecht Karls University, Heidelberg, Germany, 1984

Selected Publications

Lichter-Konecki U, Benninger C, Brandeis WE, Matthis P, Scheffner D (1987). Changes in the EEG-background activity of children with acute lymphoblastic leukemia during cytotoxic therapy.  Eur Paediatr Haematol Oncol 4:77-85. 

Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SLC, Trefz FK (1988). Linkage disequilibrium between  

mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.  Hum Genet 78:347-352. 

Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn T, Trefz FK, Woo SLC (1988). Phenylalaninehydroxylase deficiency caused by a single base substitution in the human phenylalanine hydroxylase (PAH) gene.  Biochemistry 27:2881-2885. 

Trefz FK, Lichter-Konecki U, Konecki DS, Schlotter M, Bickel H (1988). PKU and NON-PKU hyperphenylalaninemia:  Differentiation, indication for therapy and therapeutic results.  Acta Paediatr Jpn 30:397-404. 

Lichter-Konecki U, Schlotter M, Yaylak C, Özgüç M, Çoskun  T, Özalp I, Wendel U, Batzler U, Trefz FK, Konecki D (1989). DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.  Hum Genet 81:373-376. 

Lichter-Konecki U, Schlotter M, Trefz FK, Konecki DS (1989). Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.  Eur J Pediatr 149:120-123.  

Trefz FK, Yoshino M, Nishiyori A, Aengeneyndt F, Schmidt-Mader B, Lichter-Konecki U, Konecki DS  (1990). RFLP-patterns in Japanese PKU families:  new polymorphisms for the mutant phenylalanine hydroxylase gene.  Hum Genet 85:121-122. 

Dianzani I, Camaschella C, Saglio G, Ferrero GB, Romeo G, Devoto M, Romano C, Cerone R, Giovannini M, Riva E, Trefz FK, Lichter-Konecki U, Woo SLC (1990). Haplotype distribution and molecular defects of PKU in Italy.  J Inherit Metab Dis 13:292-294. 

Okano Y, Eisensmith R, Güttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H, Woo SLC (1991). Molecular basis of  phenotypic heterogeneity in phenylketonuria. N Eng J Med 324:1232-1238. 

Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mulline C, Woo SLC (1991). Molecular characterization of PKU allele prevalent in Southern Europe and Ireland. Somat Cell Mol Genet 17:303-309. 

Full Publication Via NIH PubMed

Academic and Research Interests

The pathophysiology of the brain damage caused by inborn errors of metabolism and  

neuroprotective treatments that can prevent that damage 

The cause of ADD/ADHD in inborn errors of metabolism 

The cause of renal failure in patients with renal Fanconi syndrome  

New treatments for Inborn Errors of Metabolism 

The use of whole exome sequence (WES), whole genome sequence (WGS) information in genetic diagnostics