Abstract
In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 31-51 |
| Number of pages | 21 |
| Journal | Neuroimaging Clinics of North America |
| Volume | 25 |
| Issue number | 1 |
| DOIs | |
| State | Published - 2015 |
Keywords
- Brain imaging
- Genetics
- Inborn errors of metabolism
- MRI
- Magnetic resonance
- Metabolic disorder
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology
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