Definition
Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Definition
Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Disease data
Classification
Disease
Synonyms
Glutamate-aspartate transport defect
Defekt transportu glutaminianu i aspartanianu
ORPHA code
2195
OMIM code
222730
ICD10 code
E72.0
ICD11 code
5C60.Y
No additional description.
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