Inherited Metabolic Disorders Presenting with Ataxia

Grace Silver; Saadet Mercimek-Andrews

doi:10.3390/ijms21155519

Inherited Metabolic Disorders Presenting with Ataxia

Int J Mol Sci. 2020 Aug 1;21(15):5519. doi: 10.3390/ijms21155519.

Authors

Grace Silver¹, Saadet Mercimek-Andrews^{2

3

4}

Affiliations

¹ Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON M5S 1A8, Canada.
² Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
³ Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
⁴ Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Abstract

Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, and other types of movement disorders. Seizures and a history of developmental regression especially are important clinical denominators to consider an underlying inherited metabolic disorder in a patient with ataxia. Some of the inherited metabolic disorders have disease specific treatments to improve outcomes or prevent early death. Early diagnosis and treatment affect positive neurodevelopmental outcomes, so it is important to think of inherited metabolic disorders in the differential diagnosis of ataxia.

Keywords: ataxia; inherited metabolic disorders.

Publication types

Review

MeSH terms

Ataxia / diagnosis
Ataxia / genetics
Ataxia / therapy*
Developmental Disabilities / diagnosis
Developmental Disabilities / genetics
Developmental Disabilities / therapy*
Genetic Predisposition to Disease / genetics*
Genetic Testing / methods
High-Throughput Nucleotide Sequencing / methods
Humans
Metabolic Diseases / diagnosis
Metabolic Diseases / genetics
Metabolic Diseases / therapy*
Seizures / diagnosis
Seizures / genetics
Seizures / therapy*
Treatment Outcome