Nonketotic hyperglycinemia: Pathophysiological studies
نویسندگان
چکیده
منابع مشابه
Nonketotic hyperglycinemia: Pathophysiological studies
Recent study on nonketotic hyperglycinemia, an inborn error of glycine metabolism, is reviewed from clinical, metabolic, molecular, and neuropathological points of view. This disorder is caused by an inherited deficiency of the mitochondrial glycine cleavage system (GCS), which causes accumulation of glycine in such body fluids as plasma, cerebrospinal fluid, and urine. There are four disease t...
متن کاملNonketotic hyperglycinemia in a neonate.
Hyperglycinemia represents a group of disorders characterized by elevated concentrations of glycine in body fluids. Two types exist, the ketotic and non ketotic. In the ketotic type, the most striking feature is ketoacidosis, which begins early in life and in which hyperglycinemia is secondarily associated with organic acidemias. Nonketotic hyperglycinemia (NKH) is a disorder of glycine metabol...
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Serial diffusion-weighted (DWI) and diffusion tensor imaging (DTI) were performed in a patient with neonatal onset nonketotic hyperglycinemia (NKH). At 3 weeks areas that are normally myelinated at this time showed increased T2-signal intensity and restricted diffusion, consistent with vacuolating myelinopathy. At 3 months, these areas had increased in the topographic pattern of normal myelinat...
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Seizures are a common problem in neonates. Differential diagnoses include infection, trauma, hypoxia and congenital metabolic disorders. Among these, congenital metabolic disorder is less familiar to general pediatricians. We report two patients with nonketotic hyperglycinemia (NKH), a rare and lethal congenital metabolic disease. Transient hyperammonemia and transient hypouricemia, uncommon fe...
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MR imaging in seven patients (4 days to 38 months old) with nonketotic hyperglycinemia showed age-related findings of progressive atrophy and delayed myelination. Parenchymal volume loss was found as early as 4 days after birth and increased in severity with increasing age to 27 months. Both supratentorial and infratentorial volume loss were present in the most severely affected patients. The c...
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ژورنال
عنوان ژورنال: Proceedings of the Japan Academy, Series B
سال: 2005
ISSN: 0386-2208,1349-2896
DOI: 10.2183/pjab.81.411