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Summary
DICARBOXYLIC AMINOACIDURIA DCBXA
DICARBOXYLIC AMINOACIDURIA ACIDURIA, DICARBOXYLIC AMINOACIDURIA
222730
OMIM = Online Medalian Inheritance of Men
2195
9p24.2
rare 1:28000 (Quebec)
autosomal recessive
mutation in the SLC1A1 gene
symptoms
Amino acids, urine
hypoglycemia
ketosis, ketoacidosis
mental retardation
no clinical signs or symptoms
laboratory finding
Glucose2.003.002.803.80mmol/lserum
Ketone bodies +++urine
Proline 110.00417.00increasedplasma
Aspartic acid0.000.002.0012.00increasedurinenewborn
L-Glutamic acid0.000.000.0030.00increasedurinenewborn
Literature
Jung Ret al.Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesityMol Genet Metab002006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Phornphutkul Cet al.Natural history of alkaptonuriaN Engl J Med34702111-21212002