DICARBOXYLIC AMINOACIDURIA; DCBXA

Question 1

What is  DICARBOXYLIC AMINOACIDURIA; DCBXA?

Accepted Answer

rare 1:28000 (Quebec)
autosomal recessive
mutation in the SLC1A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Dicarboxyl-Hyperaminoazidurie; Glutamat-Aspartat-Transportdefekt

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 222730

Question 4

Which enzymes are involved?

Accepted Answer

Excitatory amino acid transporter 3

Disease	DICARBOXYLIC AMINOACIDURIA; DCBXA
Synonym	DICARBOXYLIC AMINOACIDURIA; ACIDURIA, DICARBOXYLIC AMINOACIDURIA
OMIM	222730 OMIM = Online Mendelian Inheritance of Men
Orphanet	2195
Protein (UniProt)	Excitatory amino acid transporter 3
Gene locus	9p24.2
ICD	E72.0
Summary	rare 1:28000 (Quebec) autosomal recessive mutation in the SLC1A1 gene
Laboratory findings	Aspartic acid inc (urine) D-Glucose normal/dec (serum) Glutamic acid inc (urine) Ketone bodies (urine) inc (urine) Proline inc (plasma)
Symptoms	Amino acids, urine hypoglycemia ketosis, ketoacidosis mental retardation no clinical symptoms (probably) onset, childhood onset, infancy