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Dicarboxylic aminoaciduria
Disease definition
Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
ORPHA:2195
Summary
Epidemiology
Less than 10 cases have been reported to date.
Etiology
Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.
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