Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria

Pankaj Prasun; Sarah Young; Gajja Salomons; Andrea Werneke; Yong hui Jiang; Eduard Struys; Mikell Paige; Maria Laura Avantaggiati; Marie McDonald

doi:10.1007/8904_2014_378

Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria

Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke, Yong hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, Marie McDonald

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

24 Scopus citations

Abstract

Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two siblings compound heterozygotes for null/missense SLC25A1 mutations, c.18_24dup (p.Ala9Profs*82), and c.134C>T (p.Pro45Leu). These children presented with classic clinical features of D,L-2-HGA, but also showed marked facial dysmorphism. Additionally, there was prominent lactic acidosis in one of the siblings. Our observations suggest that facial dysmorphism is a previously unrecognized but an important diagnostic feature of SLC25A1 deficiency and expand the clinical phenotype linked to SLC25A1 mutations.

Original language	English
Title of host publication	JIMD Reports
Publisher	Springer
Pages	111-115
Number of pages	5
DOIs	https://doi.org/10.1007/8904_2014_378
State	Published - 2015
Externally published	Yes

Publication series

Name	JIMD Reports
Volume	19
ISSN (Print)	2192-8304
ISSN (Electronic)	2192-8312

Keywords

2-hydroxyglutaric aciduria dysmorphism
Lactic acidosis
Mitochondria
Mitochondrial citrate carrier
SLC25A1

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10.1007/8904_2014_378

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Prasun, P., Young, S., Salomons, G., Werneke, A., Jiang, Y. H., Struys, E., Paige, M., Avantaggiati, M. L., & McDonald, M. (2015). Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria. In JIMD Reports (pp. 111-115). (JIMD Reports; Vol. 19). Springer. https://doi.org/10.1007/8904_2014_378

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title = "Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria",

abstract = "Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two siblings compound heterozygotes for null/missense SLC25A1 mutations, c.18_24dup (p.Ala9Profs*82), and c.134C>T (p.Pro45Leu). These children presented with classic clinical features of D,L-2-HGA, but also showed marked facial dysmorphism. Additionally, there was prominent lactic acidosis in one of the siblings. Our observations suggest that facial dysmorphism is a previously unrecognized but an important diagnostic feature of SLC25A1 deficiency and expand the clinical phenotype linked to SLC25A1 mutations.",

keywords = "2-hydroxyglutaric aciduria dysmorphism, Lactic acidosis, Mitochondria, Mitochondrial citrate carrier, SLC25A1",

author = "Pankaj Prasun and Sarah Young and Gajja Salomons and Andrea Werneke and Jiang, {Yong hui} and Eduard Struys and Mikell Paige and Avantaggiati, {Maria Laura} and Marie McDonald",

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year = "2015",

doi = "10.1007/8904_2014_378",

language = "English",

series = "JIMD Reports",

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Prasun, P, Young, S, Salomons, G, Werneke, A, Jiang, YH, Struys, E, Paige, M, Avantaggiati, ML & McDonald, M 2015, Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria. in JIMD Reports. JIMD Reports, vol. 19, Springer, pp. 111-115. https://doi.org/10.1007/8904_2014_378

Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria. / Prasun, Pankaj; Young, Sarah; Salomons, Gajja et al.
JIMD Reports. Springer, 2015. p. 111-115 (JIMD Reports; Vol. 19).

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria

Abstract

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Keywords

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