Unknown

Dataset Information

0

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.

SUBMITTER: Prasun P 

PROVIDER: S-EPMC4501236 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

altmetric image

Publications

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 P   Young Sarah S   Salomons Gajja G   Werneke Andrea A   Jiang Yong-Hui YH   Struys Eduard E   Paige Mikell M   Avantaggiati Maria Laura ML   McDonald Marie M  

JIMD reports 20150123


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  ...[more]

Similar Datasets

| S-EPMC3617390 | biostudies-literature
| S-EPMC5986694 | biostudies-literature
| PRJEB4676 | ENA
| S-EPMC7359281 | biostudies-literature
| S-EPMC7898547 | biostudies-literature
| S-EPMC8359539 | biostudies-literature
| S-EPMC8104163 | biostudies-literature
| S-EPMC4657728 | biostudies-literature
| S-EPMC4711040 | biostudies-literature
| S-EPMC6927360 | biostudies-literature