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A rare case of glycine encephalopathy unveiled by valproate therapy.

Subramanian V, Kadiyala P, Hariharan P, Neeraj E - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system.It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay.In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Institute of Social Paediatrics, Stanley Medical College, Chennai, Tamil Nadu, India.

ABSTRACT
Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.

No MeSH data available.


Related in: MedlinePlus

Proton magnetic resonance spectroscopy showing glycine peak at 3.55 ppm
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Figure 2: Proton magnetic resonance spectroscopy showing glycine peak at 3.55 ppm

Mentions: Magnetic resonance imaging (MRI) brain revealed mild thinning of posterior part of the body of corpus callosum. MRI spine was normal. Electroencephalogram (EEG) showed bilateral frequent bursts of sharp wave discharges. Nerve conduction studies of all limbs were normal. Serum lactate, pyruvate, ammonia, and routine investigations were within normal limits. Blood tandem mass spectrometry done during follow-up revealed elevated plasma glycine values of 615 μmol/L (normal: 125–450 μmol/L) and normal levels of other amino acids and organic acids. Simultaneous quantitative chromatography and spectrophotometric estimation of both CSF and plasma revealed elevated plasma glycine of 959.76 μmol/L and CSF glycine of 799.8 μmol/L (normal: <20 μmol/L). Urine examination showed elevated urine glycine - 31.45 mg/dl (normal: 12–106 mg/day). The biochemical hallmark of GE-elevated CSF glycine to plasma glycine ratio of 0.83 (normal < 0.02) was evident. In addition, urine ketone and organic acids were negative. The child is currently on phenobarbitone and clobazam  [Figures 1 and 2].


A rare case of glycine encephalopathy unveiled by valproate therapy.

Subramanian V, Kadiyala P, Hariharan P, Neeraj E - J Pediatr Neurosci (2015 Apr-Jun)

Proton magnetic resonance spectroscopy showing glycine peak at 3.55 ppm
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489059&req=5

Figure 2: Proton magnetic resonance spectroscopy showing glycine peak at 3.55 ppm
Mentions: Magnetic resonance imaging (MRI) brain revealed mild thinning of posterior part of the body of corpus callosum. MRI spine was normal. Electroencephalogram (EEG) showed bilateral frequent bursts of sharp wave discharges. Nerve conduction studies of all limbs were normal. Serum lactate, pyruvate, ammonia, and routine investigations were within normal limits. Blood tandem mass spectrometry done during follow-up revealed elevated plasma glycine values of 615 μmol/L (normal: 125–450 μmol/L) and normal levels of other amino acids and organic acids. Simultaneous quantitative chromatography and spectrophotometric estimation of both CSF and plasma revealed elevated plasma glycine of 959.76 μmol/L and CSF glycine of 799.8 μmol/L (normal: <20 μmol/L). Urine examination showed elevated urine glycine - 31.45 mg/dl (normal: 12–106 mg/day). The biochemical hallmark of GE-elevated CSF glycine to plasma glycine ratio of 0.83 (normal < 0.02) was evident. In addition, urine ketone and organic acids were negative. The child is currently on phenobarbitone and clobazam  [Figures 1 and 2].

Bottom Line: Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system.It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay.In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Institute of Social Paediatrics, Stanley Medical College, Chennai, Tamil Nadu, India.

ABSTRACT
Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.

No MeSH data available.


Related in: MedlinePlus