• Clinical and Experimental Pediatrics
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• v.58 no.6
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• pp.230-233
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• 2015

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.6-14
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• 2006

Propionic acidemia is an autosomal recessive metabolic disorder caused by a defect of propionyl CoA carboxylase with resultant accumulation of toxic organic acid metabolites. This disorder is biochemically characterized by metabolic acidosis, ketoacidosis, hyperglycinemia and hyperammonemia. Clinical symptoms are very heterogeneous and present as a severe neonatal-onset or a late-onet form. We describe one case of propionic acidemia in a 4-year-old boy who has developed gait disturbance after acute metabolic decompensation.

• Clinical and Experimental Pediatrics
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• v.55 no.8
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• pp.301-305
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• 2012

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.85-88
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• 2002

Methylmalonic acidemia is an inborn error of branched chain amino acid metabolism, clinically characterized by lethargy, vomiting, and hypertonia with abnormal movements, and biochemically characterized by ketoacidosis, hyperammonemia, and sometimes hyperglycinemia. Conventional treatment of methylmalonic acidemia incluides dietary protein restriction, bicarbonate, carnitine, and metronidazole. However, most patient have recurrent episodes of acidosis, and a significant number have neurologic deficits and renal impairment. We report the successful treatment of a patient with methylmalonic acidemia by liver transplantation.