ISSN:
1432-198X
Keywords:
Key words: Metabolic acidosis
;
Pearson syndrome
;
Renal cyst
;
Mitochondrial DNA
;
Deletion
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract. A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050178
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