Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia
نویسندگان
چکیده
منابع مشابه
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.
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...
متن کاملNonketotic 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 two siblings with neonatal seizures.
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...
متن کاملDiffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia.
To our knowledge, we are the first to report the diffusion-weighted MR imaging findings in a 15-day-old neonate with nonketotic hyperglycinemia. We found bilaterally symmetrical lesions of restricted diffusion in the dorsal brain stem, cerebral peduncles, and posterior limbs of the internal capsule, which were more conspicuous and extensive on diffusion-weighted MR images than on T2-weighted im...
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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ژورنال
عنوان ژورنال: Journal of Children's Orthopaedics
سال: 2012
ISSN: 1863-2521,1863-2548
DOI: 10.1007/s11832-012-0407-1