Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation
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چکیده
منابع مشابه
Carnitine-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 کاملA 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 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...
متن کاملCarnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.
Carnitine-acylcarnitine translocase (CACT) deficiency (McKusick 212138) is a rare life threatening disorder characterized by hypoketotic hypoglycemia, hyperammonemia, encephalopathy, cardiomyopathy hepatopathy, and myopathy. Here, we present a detailed clinical course of 3 Saudi siblings with a severe phenotype. The third patient was described in more detail. Early medical intervention in the f...
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ژورنال
عنوان ژورنال: Medicine
سال: 2017
ISSN: 0025-7974
DOI: 10.1097/md.0000000000008549