Neonatal Hypoglycemia, Lactic Acidosis, and Pyridoxine-Dependent Epilepsy
نویسندگان
چکیده
منابع مشابه
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; refe...
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a high carbohydrate diet resulted in hypoglycemia (plasma glucose 40 mg/100 ml), lactic acidosis (6-10 mM), and a rise in plasma alanine. Glucagon produced a glycemic response after 6 hr, but not after 18 hr fasting. Intravenous galactose increased plasma glucose (A 45 mg/100 ml) but intravenous fructose, glycerol, and alanine caused a 40-50% fall in plasma glucose and a significant rise in lac...
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A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...
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متن کاملNeonatal hypoglycemia: role in infantile epilepsy.
H ypoglycemia remains a significant cause of brain injury in newborn infants(1), as highlighted by Udani, et al.(2) in this issue of Indian Pediatrics. The authors recruited 100 consecutively presenting infants with epilepsy, 83 of whom had brain imaging and/or a clear metabolic or genetic diagnosis. The majority of the 83 infants had evidence of brain injury of perinatal onset and in the large...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2012
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-26-6-7