This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.
Diagnosis of primary urea cycle disorder based on clinical suspicion confirmed by enzyme activity, DNA testing or metabolite analysis.
History of liver transplantation and/or liver biopsy OR
Planned liver transplantation and/or liver biopsy
Unavailability of histopathology report from the liver biopsy or explant, or unavailability of liver tissue or slides from the biopsy or explant OR
Anticipated inability to obtain pathology report, liver disease, tissue blocks, or pathology slides after liver biopsy or transplantation
Known history of a secondary cause for liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease
Individuals with urea cycle disorders
Cohort
Other
Not listed
Hepatic fibrosis
Staging of fibrosis from histopathology report from the liver biopsy or explant
Steatosis
Grade of steatosis from histopathology report from the liver biopsy or explant
Hepatic glycogenosis
Presence and type of glycogenosis from histopathology report from the liver biopsy or explant
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Baylor College of Medicine
Lead sponsor
Children's National Research Institute
Collaborator
