Document Detail

Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE).
MedLine Citation:
PMID:  11942535     Owner:  NLM     Status:  MEDLINE    
Autopsy study of 17 newborn infants with lethal autosomal recessive disease presenting as growth retardation with lactic acidosis, Fanconi aminoaciduria, and hepatic hemosiderosis is reported. The patients succumbed between day 1 and 4 months of life; 9 patients died within the first month. All patients showed severe pathologic changes of liver with cholestasis in all livers. Extensive accumulation of stainable iron of the hepatocytes was present in 9/17 autopsy tissues and in two biopsy specimens. Moderate to abundant iron storage in the Kupffer cells was seen in all liver specimens. The amount of hepatocytic iron was high in livers up to 1 month of age and decreased thereafter. The general features and liver findings of this disorder suggest the name Growth Retardation Aminoaciduria Cholestasis Iron Overload, Lactacidosis and Early Death (GRACILE, OMIM 603358). Calcified concrements were seen in the medulla of 13/16 kidney specimens. Pancreas of 13/14 patients showed interstitial fibrosis and exocrine atrophy. Various pathologic findings such as renal tubular dysgenesis, paucity of hepatic bile ducts and iron storage in the macrophages of spleen and pulmonary alveoli were observed in some cases. Previous extensive clinical genetic and laboratory investigations have revealed that the patients had a previously unrecognized genetic disease. It is inherited as an autosomal recessive trait. The gene locus is 2q33-37. The basic defect of the disease remains unknown.
Juhani Rapola; Päivi Heikkilä; Vineta Fellman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric pathology & molecular medicine     Volume:  21     ISSN:  1522-7952     ISO Abbreviation:  Pediatr Pathol Mol Med     Publication Date:    2002 Mar-Apr
Date Detail:
Created Date:  2002-04-10     Completed Date:  2002-10-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100885435     Medline TA:  Pediatr Pathol Mol Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  183-93     Citation Subset:  IM    
Department of Pathology, Hospital for Children and Adolscents, University Central Hospital and University of Helsinki, Finland.
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MeSH Terms
Acidosis, Lactic / metabolism*
Age Factors
Birth Weight
Fetal Growth Retardation / complications,  mortality*,  pathology*
Gestational Age
Hepatocytes / metabolism
Infant, Newborn
Iron / metabolism*,  pharmacology*
Liver / pathology
Renal Aminoacidurias / complications,  pathology*
Time Factors
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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