Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine
transportation. The clinical manifestations of CDSP can vary widely with respect to age of …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-encoded
proteins including a battery of enzymes forming the replisome needed to synthesize …

Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders
that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular …

Mitochondria are found in all nucleated human cells and perform various essential functions,
including the generation of cellular energy. Mitochondria are under dual genome control. …

… This study was funded by the Society for Inherited Metabolic Disorders (SIMD) through the
SIMD/Hyperion fellowship award that Ayman El-Hattab has received. We also acknowledge …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

Inborn errors of metabolism (IEMs) are a group of disorders each of which results from deficient
activity of a single enzyme in a metabolic pathway. Although IEMs are individually rare, …

Carnitine is a hydrophilic quaternary amine that plays a number of essential roles in metabolism
with the main function being the transport of long-chain fatty acids from the cytosol to the …