Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific
نویسندگان
چکیده
منابع مشابه
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.
BACKGROUND In carnitine palmitoyltransferase I (CPT-I) deficiency (MIM 255120), free carnitine can be increased with no pathologic acylcarnitine species detectable. As inclusion of CPT-I deficiency in high-risk and newborn screening could prevent potentially life-threatening complications, we tested whether CPT-I deficiency might be diagnosed by electrospray ionization-tandem mass spectrometry ...
متن کاملMolecular basis of hepatic carnitine palmitoyltransferase I deficiency.
Mitochondrial fatty acid beta-oxidation is important for energy production, which is stressed by the different defects found in this pathway. Most of the enzyme deficiencies causing these defects are well characterized at both the protein and genomic levels. One exception is carnitine palmitoyltransferase I (CPT I) deficiency, of which until now no mutations have been reported although the defe...
متن کاملCarnitine palmitoyltransferase II deficiency
The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling tech...
متن کاملA newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and s...
متن کاملRegulation by oestrogen of carnitine palmitoyltransferase in hepatic mitochondria.
Treatment of female rats with ethynyloestradiol decreased both the activity of carnitine palmitoyltransferase and its Ki value for malonyl-CoA compared with pair-fed control rats. In starved rats, carnitine palmitoyltransferase activity and its Ki value for malonyl-CoA were both elevated as expected. Oestrogen treatment had no effect on carnitine palmitoyltransferase activity in the starved sta...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2001
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/47.10.1763