Dicarboxylic Aminoaciduria

Stefan Broer

doi:10.1007/978-3-540-29676-8_484

Dicarboxylic Aminoaciduria

Stefan Broer

Research output: Chapter in Book/Report/Conference proceeding › Entry for encyclopedia/dictionary › peer-review

Abstract

Dicarboxylic aminoaciduria is a rare disorder of autosomal recessive inheritance [1]. It is characterized by highly elevated amounts of glutamate and aspartate in the urine. In several reported cases the clearance exceeded the glomerular filtration rate, indicating active secretion of glutamate [2]. Glutamate levels are usually significantly higher than aspartate levels, reflecting their relative concentration in blood plasma. Newborn urine screening programs suggest that dicarboxylic aminoaciduria is a benign condition [3]. A few cases with mental retardation have been reported, however, in these cases the aminoaciduria was detected retrospectively. Dicarboxylic aminoaciduria is often accompanied by hyperprolinemia.

Original language	English
Title of host publication	Encyclopedia of Molecular Mechanisms of Disease
Editors	Florian Lang
Place of Publication	Berlin
Publisher	Springer
Pages	530-532pp
Volume	3
Edition	1st
ISBN (Print)	9783540671367
DOIs	https://doi.org/10.1007/978-3-540-29676-8_484
Publication status	Published - 2009

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10.1007/978-3-540-29676-8_484

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title = "Dicarboxylic Aminoaciduria",

abstract = "Dicarboxylic aminoaciduria is a rare disorder of autosomal recessive inheritance [1]. It is characterized by highly elevated amounts of glutamate and aspartate in the urine. In several reported cases the clearance exceeded the glomerular filtration rate, indicating active secretion of glutamate [2]. Glutamate levels are usually significantly higher than aspartate levels, reflecting their relative concentration in blood plasma. Newborn urine screening programs suggest that dicarboxylic aminoaciduria is a benign condition [3]. A few cases with mental retardation have been reported, however, in these cases the aminoaciduria was detected retrospectively. Dicarboxylic aminoaciduria is often accompanied by hyperprolinemia.",

author = "Stefan Broer",

year = "2009",

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language = "English",

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T1 - Dicarboxylic Aminoaciduria

AU - Broer, Stefan

PY - 2009

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N2 - Dicarboxylic aminoaciduria is a rare disorder of autosomal recessive inheritance [1]. It is characterized by highly elevated amounts of glutamate and aspartate in the urine. In several reported cases the clearance exceeded the glomerular filtration rate, indicating active secretion of glutamate [2]. Glutamate levels are usually significantly higher than aspartate levels, reflecting their relative concentration in blood plasma. Newborn urine screening programs suggest that dicarboxylic aminoaciduria is a benign condition [3]. A few cases with mental retardation have been reported, however, in these cases the aminoaciduria was detected retrospectively. Dicarboxylic aminoaciduria is often accompanied by hyperprolinemia.

AB - Dicarboxylic aminoaciduria is a rare disorder of autosomal recessive inheritance [1]. It is characterized by highly elevated amounts of glutamate and aspartate in the urine. In several reported cases the clearance exceeded the glomerular filtration rate, indicating active secretion of glutamate [2]. Glutamate levels are usually significantly higher than aspartate levels, reflecting their relative concentration in blood plasma. Newborn urine screening programs suggest that dicarboxylic aminoaciduria is a benign condition [3]. A few cases with mental retardation have been reported, however, in these cases the aminoaciduria was detected retrospectively. Dicarboxylic aminoaciduria is often accompanied by hyperprolinemia.

U2 - 10.1007/978-3-540-29676-8_484

DO - 10.1007/978-3-540-29676-8_484

M3 - Entry for encyclopedia/dictionary

SN - 9783540671367

VL - 3

SP - 530

EP - 532

BT - Encyclopedia of Molecular Mechanisms of Disease

A2 - null, Florian Lang

PB - Springer

CY - Berlin

ER -

Dicarboxylic Aminoaciduria

Abstract

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