Publications by authors named "Tiina A Tyni"
Article Synopsis
- Childhood cardiomyopathies are severe genetic disorders leading to heart failure in children, with a lack of comprehensive genetic understanding.
- A study in Finland involving 66 patients revealed that 39% had identifiable genetic mutations, with different inheritance patterns influencing treatment approaches and prognoses.
- Findings point to important genetic pathways associated with the conditions, highlighting the role of next-generation sequencing in diagnosing these rare diseases for better patient management.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a mitochondrial fatty acid beta-oxidation defect characterized by accumulation of long-chain hydroxyacylcarnitine intermediates and female carriers of this disorder are in risk for pregnancy complications. We found elevated blood long-chain hydroxyacylcarnitine species in a carrier of LCHAD deficiency at 31weeks of pregnancy with a LCHAD deficient fetus during acute fatty liver of pregnancy-like liver involvement, but had been within the normal range at 25weeks of pregnancy. This finding supports the hypothesis of acylcarnitine accumulation in pathogenesis of AFLP in carriers of LCHAD and MTP deficiencies.
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