Articles Posted bylindsay

Complex IV Deficiency / COX Deficiency Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain....

Creatine Deficiency Syndromes Additional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase...

LBSL – Leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a result of a DARS2 gene...

MIRAS Long Name: Mitochondrial Recessive Ataxia Syndrome. Symptoms: encephalopathy, balance problems, ataxia, epilepsy, cognitive impairment,...

Mitochondrial DNA Depletion Symptoms: Three forms:  Infantile myopathy Following normal early development until one year old, weakness...

VLCAD Long Name: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Various manifestations, ranging from fatal infantile...