Nonketotic Hyperglycinemia: Two Patients with Primary Defects of P-Protein and T-Protein, Respectively, in the Glycine Cleavage System
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چکیده
منابع مشابه
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
The crystal structure of the P-protein of the glycine cleavage system from Thermus thermophilus HB8 has been determined. This is the first reported crystal structure of a P-protein, and it reveals that P-proteins do not involve the alpha(2)-type active dimer universally observed in the evolutionarily related pyridoxal 5'-phosphate (PLP)-dependent enzymes. Instead, novel alphabeta-type dimers as...
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Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia
The glycine cleavage system catalyzes the following reversible reaction: Glycine + H(4)folate + NAD(+) <==> 5,10-methylene-H(4)folate + CO(2) + NH(3) + NADH + H(+)The glycine cleavage system is widely distributed in animals, plants and bacteria and consists of three intrinsic and one common components: those are i) P-protein, a pyridoxal phosphate-containing protein, ii) T-protein, a protein re...
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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1983
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198312000-00008