Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.
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ABSTRACT:
SUBMITTER: Anastasio N
PROVIDER: S-EPMC5388639 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.
Anastasio Natascia N Tarailo-Graovac Maja M Al-Khalifah Reem R Legault Laurent L Drogemoller Britt B Ross Colin J D CJ Wasserman Wyeth W WW van Karnebeek Clara C Buhas Daniela D
JIMD reports 20160414
Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our patient's unusual presentation, whole-exome sequencing (WES) was performed on the parent-offspring trio. The patient was homozygous for the c.643C>T (p.Leu215Phe) variant in CYC1, a nuclear gene whic ...[more]
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