A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey.

Background: Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely.

Case: In this article, we presented a 26-month-old patient who was admitted with an acute rhabdomyolysis attack and a venovenous hemodiafiltration (CVVHDF) was initiated on the 5th hour of hospitalization.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.

Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families.

Coexistence of Gaucher Disease and severe congenital neutropenia.

Gaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematological manifestations in GD and has not been scrutinized adequately.

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

Background And Aims: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2).

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).

Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival.

Methods: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available.

P-wave dispersion: an indicator of cardiac autonomic dysfunction in children with neurocardiogenic syncope.

Neurocardiogenic syncope is the most frequent cause of fainting in childhood and adolescence. Although head-up tilt table testing (HUTT) was previously considered as the reference standard in the diagnosis of syncope, in children with a typical history of reflex syncope, normal physical examination, and electrocardiogram (ECG) are sufficient to cease investigation; however, according to recent reports, TT is indicated in patients in whom this diagnosis cannot be proven by initial evaluation. The hypothesis of this study is that P-wave dispersion (PWD) can be a useful electrocardiographic predictor of cardiac autonomic dysfunction in children with vasovagal syncope (VVS).