Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant
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DOI: 10.1007/s11011-021-00757-w
Abstract: Hyperprolinemia type II (HPII) is a rare autosomal recessive disorder of proline degradation pathway due to deficiency of delta-1-pyrroline-5-carboxylate dehydrogenase. Pathogenic variants in the ALDH4A1 gene are responsible for this disorder. We here describe an… read more here.
Keywords: novel nonsense; gene; aldh4a1 gene; hyperprolinemia type ... See more keywords