Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns
نویسندگان
چکیده
منابع مشابه
A mitochondrial carnitine acylcarnitine translocase system.
Acetylation of added (-)carnitine by heart mitochondira coupled to the oxidation of pyruvate in the presence of malonate was inhibited, apparently competitively, by long chain acyl(+)carnitines although the activity of carnitine acetyltransferase (EC 2.3.1.7) itself was not affected. Mitochondria have been found to possess a translocase system that allows the transport of carnitine and acylcarn...
متن کاملCharacterization of carnitine acylcarnitine translocase system of heart mitochondria.
Mersalyl inhibited the respiration of heart mitochondria under conditions that required the transport of (-)-carnitine and acyl(-)-carnitines. The exchange of external carnitine and acylcarnitines for intramitochondrial carnitine was also inhibited by mersalyl and 1 mM mersalyl proved suitable for the inhibitor-stop assay of carnitine acylcarnitine translocase. The carnitine-carnitine and (-)-c...
متن کاملCarnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation
RATIONALE Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound h...
متن کاملCombination of Hyperammonaemia and Tachyarrhythmia in a Newborn with Carnitine-acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is one of the fatty acid oxidation defects that presents early in the newborn period. It is known to be associated with a high mortality with a number of the earlier reported cases presenting as sudden infant death syndrome. Like most inborn errors of metabolism, presentation of CACT deficiency is rather non specific. Typical biochemical pro...
متن کاملCarnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine...
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ژورنال
عنوان ژورنال: Translational pediatrics
سال: 2023
ISSN: ['2224-4344', '2224-4336']
DOI: https://doi.org/10.21037/tp-23-371