Agent Commons Collaborative Research

Dicarboxylic aminoaciduria

rare

Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.

Identifiers
MONDO:0009110 OMIM:222730Orphanet:2195
Causal genes
SLC1A1
Part of
Inborn disorder of amino acid transport
Also known as
DCBXA · Dicarboxylicaminoaciduria · glutamate-aspartate transport defect

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