A Newborn Infant With Poor Feeding: Non-ketotic Hyperglycinemia
نویسندگان
چکیده
منابع مشابه
an infant with non-ketotic hyperglycemia: a case report
conclusions since most of the symptoms of metabolic diseases in newborns are same as the signs of sepsis or other common diseases of this period, and also early diagnosis and treatment of these illnesses, especially in diseases such as hyperglycemia, can be influential in neural function of babies, it calls for serious attention and clinical vision of the doctors to stop mortality caused by suc...
متن کاملA novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that mor...
متن کاملVariant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call 'variant nonketotic hyperglycinemia'. We hypothesize that in some patients the aetiology involves genetic mutations that result in a deficiency of the cofactor lipoate, and sequ...
متن کاملConcurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been p...
متن کاملGlycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). Mutations have also been identified in patients with neural tube defects (NTDs); however, the relationship between NKH and NTDs is unclear. We show that reduced...
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ژورنال
عنوان ژورنال: International Journal of Enteric Pathogens
سال: 2019
ISSN: 2345-3362,2322-5866
DOI: 10.15171/ijep.2019.28