Table 4.

Other Monogenic Disorders That Cause or Resemble Leigh Syndrome Spectrum

Key FeatureGene(s)DisorderMOI
Infantile bilateral striatal necrosis ADAR ADAR-related Aicardi-Goutières syndromeAR
AD 1
NUP62 NUP62-related infantile bilateral striatal necrosis (OMIM 605815)AR
Infection-induced acute encephalopathy RANBP2 RANBP2-related susceptibility to infection-induced acute encephalopathy 3 (OMIM 608033)AD
Neurodegenerative &/or neurodevelopmental
disorders w/similar changes on neuroimaging 		ATP7B Wilson disease AR
FTL Neuroferritinopathy AD
GAMT GAMT deficiency (See Creatine Deficiency Disorders.)AR
GCDH Glutaric acidemia type 1 AR
MCEE
MMAA
MMAB
MMADHC
MMUT 		Isolated methylmalonic acidemia AR
MORC2 Developmental delay, impaired growth, dysmorphic facies, & axonal neuropathy (OMIM 619090)AD
PANK2 Pantothenate kinase-associated neurodegeneration AR
PCCA
PCCB 		Propionic acidemia AR
1.

ADAR-related Aicardi-Goutières syndrome can be inherited in an autosomal recessive or autosomal dominant manner depending on the specific pathogenic variant.

From: Mitochondrial DNA-Associated Leigh Syndrome Spectrum

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.