The Urea Cycle Disorders Consortium
Participating Clinical Centers  

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Children's National Medical Center
Washington, DC

Children's National Medical Center

Children's Research Institute, Children's National Medical Center

Ornithine Transcarbamylase Deficiency Website

 

Contact Information:

Contact Information for Physicians and Health Care Professionals (24 hour):
202.476.5000

Uta Lichter-Konecki, MD, PhD
Principal Investigator
E-mail: ulichter@cnmc.org

Kara Lord, MS
Genetic Counselor
Research Study Coordinator
Phone: 202.476.6216
E-mail: klord@cnmc.org

 

Current Studies:

5101: Longitudinal Study of Urea Cycle Disorders

 

List of Publications:

Caldovic L, Morizono H, Panglao MG, Lopez G, Shi S, Summar ML, Tuchman M
(2004) Late onset N-acetylglutamate synthase deficiency caused by
hypomorphic alleles. Hum Mutat (in press)

Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M,
Tuchman M (2004) Restoration of ureagenesis in N-acetylglutamate
synthase deficiency by N-carbamylglutamate. J Pediatr 145:552-554

Caldovic L, Tuchman M (2003) N-acetylglutamate and its changing role
through evolution. Biochem J 372:279-90

Caldovic L, Morizono M, Panglao M, Cheng SF, Packman S, Tuchman M (2003)
Null mutations in the N-acetylglutamate synthase gene associated with
acute neonatal disease and hyperammonemia. Hum genet 112:364-368

Caldovic L, Morizono H, Panglao MG, Gallegos R, Yu X, Shi D, Malamy MH,
Norma M. Allewell NM, Tuchman M (2002) Cloning and expression of the
human N-acetylglutamate synthase gene. Biochem Biophys Res Commun
299:581-586

Caldovic L, Morizono H, Yu X, Thompson M, Shi D, Gallegos R, Allewell
NM, Malamy MH, Tuchman M (2002) Identification, cloning and expression
of the mouse N-acetylglutamate synthase gene. Biochem J 364:825-831

NIH Funded Grants:


Batshaw, Mark 5U54RR019453-05 Rare Diseases CRC- Urea Cycle Disorders
    
Batshaw, Mark L. and James M. Wilson 1P01HD057247-01 Gene Therapy for Urea Cycle Disorders

Dobrowolski, Steven 1R43DK69106-02 Genotype analysis for diagnosis of urea cycle disorders

Gropman, Andrea NCRR career development award K12RR17613: assessing neural mechanisms of injury in inborn errors of metabolism using structural, fMRI and magnetic resonance spectroscopy.

Tuchman, Mendel 5R01DK047870-14 The molecular bases of inherited urea cycle disorders and ureagenesis regulation

Tuchman, Mendel 5R01DK064913-06 N-acetylglutamate Synthase: Structure, Function & Defects

Tuchman, Mendel 1R01HD058567-01 N-carbamylglutamate in the treatment of hyperammonemia