Journal article
Biochemical abnormalities in Pearson syndrome
American journal of medical genetics. Part A, Vol.167(3), pp.621-628
03/2015
DOI: 10.1002/ajmg.a.36939
PMID: 25691415
Abstract
Pearson marrow‐pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns–Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3‐hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low‐normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low‐normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders. © 2015 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Biochemical abnormalities in Pearson syndrome
- Creators
- Beatrice Letizia Crippa - University of MilanoEyby Leon - University of UtahAmy Calhoun - University of MinnesotaAmy Lowichik - Primary Children's HospitalMarzia Pasquali - University of UtahNicola Longo - University of Utah
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.167(3), pp.621-628
- DOI
- 10.1002/ajmg.a.36939
- PMID
- 25691415
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 8
- Language
- English
- Date published
- 03/2015
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093491502771
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