Details of Disease | DrugMAP

General Information of Disease (ID: DISVXLLV)

Disease Name	Dicarboxylic aminoaciduria
Synonyms	DCBXA; Dicarboxylicaminoaciduria; glutamate-aspartate Transport defect; dicarboxylic aminoaciduria; glutamate-aspartate transport defect
Definition	Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Disease Hierarchy	DIS1BLHT: Inborn disorder of amino acid transport DISVXLLV: Dicarboxylic aminoaciduria
Disease Identifiers	MONDO ID MONDO_0009110 MESH ID C536171 UMLS CUI C1857253 OMIM ID 222730 MedGen ID 387782 Orphanet ID 2195 SNOMED CT ID 716747007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC1A1	TTG2A6F	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC1A1	DTJIRMD	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC1A1	OT3B9M6W	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan;121(1):446-53.