Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?: A third biochemical variant of 2-hydroxyglutaric aciduria?

A. C. Muntau; W. Röschinger; A. Merkenschlager; M. S. van der Knaap; C. Jakobs; M. Duran; G. F. Hoffmann; A. A. Roscher

doi:10.1055/s-2000-7497

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? A third biochemical variant of 2-hydroxyglutaric aciduria?

A. C. Muntau
, W. Röschinger
, A. Merkenschlager
, M. S. van der Knaap
, C. Jakobs
, M. Duran
, G. F. Hoffmann
, A. A. Roscher

pre-AMC
Ludwig Maximilian University of Munich
Utrecht University
Heidelberg University

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder

Original language	English
Pages (from-to)	137-140
Number of pages	4
Journal	Neuropediatrics
Volume	31
Issue number	3
DOIs	https://doi.org/10.1055/s-2000-7497
Publication status	Published - Jun 2000

Keywords

Hydroxyglutaric aciduria
Infantile epilepsy
Inherited metabolic disorder
Neonatal onset encephalopathy
Organic aciduria
Prenatal diagnosis

Access to Document

10.1055/s-2000-7497

Cite this

Muntau, A. C., Röschinger, W., Merkenschlager, A., van der Knaap, M. S., Jakobs, C., Duran, M., Hoffmann, G. F., & Roscher, A. A. (2000). Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? A third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics, 31(3), 137-140. https://doi.org/10.1055/s-2000-7497

@article{6464012ef7044222adae9644328dbb35,

title = "Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?: A third biochemical variant of 2-hydroxyglutaric aciduria?",

abstract = "Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder",

keywords = "Hydroxyglutaric aciduria, Infantile epilepsy, Inherited metabolic disorder, Neonatal onset encephalopathy, Organic aciduria, Prenatal diagnosis",

author = "Muntau, \{A. C.\} and W. R{\"o}schinger and A. Merkenschlager and \{van der Knaap\}, \{M. S.\} and C. Jakobs and M. Duran and Hoffmann, \{G. F.\} and Roscher, \{A. A.\}",

year = "2000",

month = jun,

doi = "10.1055/s-2000-7497",

language = "English",

volume = "31",

pages = "137--140",

journal = "Neuropediatrics",

issn = "0174-304X",

publisher = "Hippokrates Verlag GmbH",

number = "3",

}

Muntau, AC, Röschinger, W, Merkenschlager, A, van der Knaap, MS , Jakobs, C, Duran, M, Hoffmann, GF & Roscher, AA 2000, 'Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? A third biochemical variant of 2-hydroxyglutaric aciduria?', Neuropediatrics, vol. 31, no. 3, pp. 137-140. https://doi.org/10.1055/s-2000-7497

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? A third biochemical variant of 2-hydroxyglutaric aciduria? / Muntau, A. C.; Röschinger, W.; Merkenschlager, A. et al.
In: Neuropediatrics, Vol. 31, No. 3, 06.2000, p. 137-140.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

T2 - A third biochemical variant of 2-hydroxyglutaric aciduria?

AU - Muntau, A. C.

AU - Röschinger, W.

AU - Merkenschlager, A.

AU - van der Knaap, M. S.

AU - Jakobs, C.

AU - Duran, M.

AU - Hoffmann, G. F.

AU - Roscher, A. A.

PY - 2000/6

Y1 - 2000/6

N2 - Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder

AB - Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder

KW - Hydroxyglutaric aciduria

KW - Infantile epilepsy

KW - Inherited metabolic disorder

KW - Neonatal onset encephalopathy

KW - Organic aciduria

KW - Prenatal diagnosis

UR - https://www.scopus.com/pages/publications/0343628796

U2 - 10.1055/s-2000-7497

DO - 10.1055/s-2000-7497

M3 - Article

C2 - 10963100

SN - 0174-304X

VL - 31

SP - 137

EP - 140

JO - Neuropediatrics

JF - Neuropediatrics

IS - 3

ER -

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? A third biochemical variant of 2-hydroxyglutaric aciduria?

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this