Case reportNeonatal glycine encephalopathy: Biochemical and neuropathologic findings
References (15)
- et al.
The distribution of glycine receptors in the human brain. A light microscopic autoradiographic study using 3H strychnine
J Neurol Sci
(1986) Glycine receptors: Heterogeneous and widespread in the mammalian brain
Trends Neurosci
(1991)- et al.
GABA: An excitatory transmitter in early postnatal life
Trends Neurosci
(1991) Glycine modulation of the NMDA receptor/channel complex
Trends Neurosci
(1989)Nonketotic hyperglycinemia
- et al.
The neuropathology of glycine encephalopathy: A report of five cases with immunohistochemical and ultrastructural observations
Neurology
(1982) - et al.
The neuropathology of the nonketotic and ketotic hyperglycinemias: 3 cases
Neurology
(1978)
Cited by (15)
Uremic encephalopathy
2022, Kidney InternationalCitation Excerpt :The importance of these neurotransmitters has been demonstrated in several nonuremic encephalopathies. Glycine is linked to neonatal and childhood encephalopathies, while in hepatic encephalopathy, similar changes in branched amino acids and glutamate occur as in uremic encephalopathy.58–61 These amino acids do not conform to the classical definition of “uremic toxins,”62 as the data for glycine and glutamate do not unequivocally point to accumulation in CKD while circulating branched chain amino acids are decreased.63–69
Amino Acids
2018, Volpe's Neurology of the NewbornX-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
2017, Pediatric NeurologyCitation Excerpt :The progression over the entire internal capsule and posterior white matter restricted diffusion and decreased apparent diffusion coefficient values (Fig 2) has also been observed in NKH but not in cblC/D patients.9,10 Neuropathologically, this MRI pattern can correspond to a vacuolating myelinopathy whereby myelinated areas undergo spongiosis with microcysts resulting in restricted diffusion, as observed in NKH.11 However, no molecular genetic confirmation was found for AMT, GLDC, or GCSH.
Experimental and clinical evidence of the role of cytokines and growth factors in the pathogenesis of acquired cobalamin-deficient leukoneuropathy
2008, Brain Research ReviewsCitation Excerpt :AIDS vacuolar myeloneuropathy is histopathologically almost indistinguishable from Cbl-Df leukoneuropathy (Di Rocco et al., 2002). Spongy vacuolation of CNS white matter is not specific to Cbl-Df leukoneuropathy, but also occurs in the CNS white or gray matter of different human and experimental diseases (e.g. glycine leukoencephalopathy (Agamanolis et al., 1993), encephalopathies caused by some retroviruses (Lynch et al., 1991) and prion proteins (Prusiner, 2001), some mitochondriopathies (Sparaco et al., 1993), and vanishing white matter (VWM) disease (van der Knaap et al., 2006)). We will only consider some key points concerning the difference between the CNS lesions of acquired Cbl deficiency and those of inherited Cbl disorders (named from cblA to cblH) (Rasmussen et al., 2001; Whitehead, 2006).
Hyperglycinémie sans cétose et dysfonctionnement des récepteurs NMDA
1996, Archives de PediatrieBrain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
2019, Journal of Inherited Metabolic Disease