Neonatal non‐ketotic hyperglycinemia: Report of five cases

Demirel, Nihal; Baş, Ahmet Yağmur; Zencıroğlu, Ayşegül; Aydemir, Cumhur; Kalkanoglu, Serap; Coşkun, Turgay

doi:10.1111/j.1442-200x.2007.02513.x

Cited by 20 publications

(32 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An increase in glycine peak, at 3.56 ppm, without an increase in myoinositol has been reported as a typical finding of NKH. MR spectroscopy may be useful in establishing an early diagnosis and response to treatment 1,9 . Our case demonstrated a high glycine peak on MR spectroscopy.…”

Section: Discussionmentioning

confidence: 62%

“…The activation of NMDA receptors leads to persistent seizures refractory to treatment. 1,3 The case presented here demonstrated hypotonicity, decreased neonatal reflexes, decreased respiratory drive, hiccups and myoclonic seizures.…”

Section: Discussionmentioning

confidence: 68%

“…The biochemical defect is in the glycine cleavage system which consists of a mitochondrial enzyme complex. There are four forms of glycine encephalopathy: neonatal; infantile; transient; and late 1 . The enzyme level is close to zero in the neonatal form which is the most common and severe form.…”

mentioning

confidence: 99%

“…There are four forms of glycine encephalopathy: neonatal; infantile; transient; and late. 1 The enzyme level is close to zero in the neonatal form which is the most common and severe form. The clinical manifestations of poor sucking, hypotonicity, lethargy, hiccups and seizures develop within 6 h to 8 days of birth of an otherwise healthy newborn.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Diagnostic tools of metabolic and structural brain disturbances in neonatal non‐ketotic hyperglycinemia

Terek

Köroğlu²,

Güneş³

et al. 2012

Pediatrics International

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 68%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Diagnostic tools of metabolic and structural brain disturbances in neonatal non‐ketotic hyperglycinemia

Terek

Köroğlu²,

Güneş³

et al. 2012

Pediatrics International

View full text Add to dashboard Cite

show abstract

“…Mutations associated with residual enzyme activity seem to be associated with a milder outcome and infantile presentation, and 2 mutations with no residual enzyme activity seem to be associated with severe outcome and neonatal onset. [2][3][4] The initial EEG typically shows a burst-suppression pattern that evolves into hypsarrhythmia or multifocal spikes over the next few months. MRI can be normal or show agenesis of the corpus callosum.…”

Section: Sectionmentioning

confidence: 99%

Clinical Reasoning: A 2-day-old baby girl with encephalopathy and burst suppression on EEG

Dhamija

Mack²

2011

Neurology

View full text Add to dashboard Cite

Glycine Administration Alters MAPK Signaling Pathways and Causes Neuronal Damage in Rat Brain: Putative Mechanisms Involved in the Neurological Dysfunction in Nonketotic Hyperglycinemia

et al. 2017

View full text Add to dashboard Cite

High glycine (GLY) levels have been suggested to induce neurotoxic effects in the central nervous system of patients with nonketotic hyperglycinemia (NKH). Since the mechanisms involved in the neuropathophysiology of NKH are not totally established, we evaluated the effect of a single intracerebroventricular administration of GLY on the content of proteins involved in neuronal damage and inflammatory response, as well as on the phosphorylation of the MAPK p38, ERK1/2, and JNK in rat striatum and cerebral cortex. We also examined glial fibrillary acidic protein (GFAP) staining, a marker of glial reactivity. The parameters were analyzed 30 min or 24 h after GLY administration. GLY decreased Tau phosphorylation in striatum and cerebral cortex 30 min and 24 h after its administration. On the other hand, synaptophysin levels were decreased in striatum at 30 min and in cerebral cortex at 24 h after GLY injection. GLY also decreased the phosphorylation of p38, ERK1/2, and JNK 30 min after its administration in both brain structures. Moreover, GLY-induced decrease of p38 phosphorylation in striatum was attenuated by N-methyl-D-aspartate receptor antagonist MK-801. In contrast, synuclein, NF-κB, iκB, inducible nitric oxide synthase and nitrotyrosine content, and GFAP immunostaining were not altered by GLY infusion. It may be presumed that the decreased phosphorylation of MAPK associated with alterations of markers of neuronal injury induced by GLY may contribute to the neurological dysfunction observed in NKH.

show abstract

Neonatal non‐ketotic hyperglycinemia: Report of five cases

Cited by 20 publications

References 11 publications

Diagnostic tools of metabolic and structural brain disturbances in neonatal non‐ketotic hyperglycinemia

Diagnostic tools of metabolic and structural brain disturbances in neonatal non‐ketotic hyperglycinemia

Clinical Reasoning: A 2-day-old baby girl with encephalopathy and burst suppression on EEG

Glycine Administration Alters MAPK Signaling Pathways and Causes Neuronal Damage in Rat Brain: Putative Mechanisms Involved in the Neurological Dysfunction in Nonketotic Hyperglycinemia

Contact Info

Product

Resources

About