Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

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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.

Full Text

Duke Authors

Cited Authors

  • Prasun, P; Young, S; Salomons, G; Werneke, A; Jiang, Y-H; Struys, E; Paige, M; Avantaggiati, ML; McDonald, M

Published Date

  • 2015

Volume / Issue

  • 19 /

Start / End Page

  • 111 - 115

PubMed ID

  • 25614306

Pubmed Central ID

  • 25614306

Digital Object Identifier (DOI)

  • 10.1007/8904_2014_378