Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later

Abstract

We present a 53‐year‐old male with nonketotic hyperglycinemia (NKH) who presented in decompensated state to our university hospital several months prior to a primary diagnosis of multifocal pneumonia accompanied by reports of seizure‐like activity, altered mental status, tremors, and fever. He was initially diagnosed with NKH in his preschool years, over 40 years previously, along with his younger sister. At that time, he had developmental and physical delays (which his sister also experienced). His health course has been relatively uneventful otherwise, as regards decompensation of his disease, and he has not been on the standard regimens of reduced dietary glycine intake along with dextromethorphan and sodium benzoate. Recent molecular confirmation of NKH was completed and both he and his sibling likely have an attenuated form of NKH mediated by the combined effects of their variants. This paper presents what we believe to be report of the oldest surviving individuals with attenuated NKH.

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature

“…Brain MRI often shows thin and shortened corpus callosum, hydrocephalus, cerebral atrophy, ventricular dilatation, hypomyelination [ 1 ]. Most of patients with glycine encephalopathy have an uneventful pregnancy with normal delivery ( Supplementary Table S1 ) [ [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] ]. Here, we document an 8-year-old-boy with late-onset nonketotic hyperglycinemia (NKH) in whom WES revealed a novel homozygous GLDC likely pathogenic variant c.707G > A p.(Arg236Gln).…”