Table 4.

X-Linked Leigh Syndrome and Leigh-Like Syndrome

Disease NameGeneDistinguishing FeaturesLaboratory FindingsReference
PDH deficiency PDHA1 Psychomotor retardation; seizures; choreoathetosis; dystonia; episodic ataxia in some; microcephaly; cerebral atrophy; cystic lesions in basal ganglia, brain stem, & cerebral hemispheres; agenesis of corpus callosum; facial dysmorphismLow/low-normal lactate/pyruvate ratio in blood & CSF; PDH deficiency (fbs) Rahman et al [1996]
Complex I-deficient LS NDUFA1 Developmental delay; axial hypotonia; nystagmus; choreoathetosis; myoclonic epilepsy; survival to 30s in 2 personsComplex I deficiency (mb) Fernandez-Moreira et al [2007]
X-linked mt encephalomyopathy AIFM1 Encephalomyopathy w/bilateral striatal lesionsMultiple RCE deficiencies (mb) Ghezzi et al [2010]

CSF = cerebrospinal fluid; fbs = cultured skin fibroblasts; LS = Leigh syndrome; mb = muscle biopsy; mt = mitochondrial; PDH = pyruvate dehydrogenase; RCE = respiratory chain enzyme

From: Mitochondrial DNA-Associated Leigh Syndrome and NARP

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