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 proceedingChapterpeer-review

20 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 languageEnglish
Title of host publicationJIMD Reports
PublisherSpringer
Pages111-115
Number of pages5
DOIs
StatePublished - 2015
Externally publishedYes

Publication series

NameJIMD Reports
Volume19
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

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

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