Cross-Cultural Differences in Stigma Associated with Parkinson's Disease: A Systematic Review.

Background: Stigma is an important social attitude affecting the quality of life (QoL) of people with Parkinson's disease (PwP, PD) as individuals within society.

Objective: This systematic review aimed to 1) identify the factors associated with stigma in PD and 2) demonstrate culture-based diversity in the stigmatization of PwP. We also reported data from the Turkish PwP, which is an underrepresented population.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum.

A Rare Pitfall in Bone Mineral Densitometry: Gaucher Disease.

We report a rare case of type 3 Gaucher disease presenting with calcified mesenteric lymph nodes that interfere with bone mineral densitometric measurements.

A Rare Pediatric Case of Severe Rhabdomyolysis Owing to Dual Infection.

Aim: We aimed to report a severe and rare pediatric rhabdomyolysis case associated with a dual viral infection.

Case: A 13 year-old, healthy girl presented with the complaints of fever, abdominal pain, weakness and dark-colored urine. She was diagnosed with rhabdomyolysis based on clinical signs and laboratory findings.

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.

Objectives: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy.

Methods: In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families.

Results: We inspected disease course differences with age and mutations.

An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.

Congenital glycosylation defects are autosomal recessive disorders clinically characterized with growth retardation, hypotonia and multisystemic involvement. Congenital glycosylation defect type Ib is due to deficiency in phosphomannose isomerase which converts fructose-6-phosphate into mannose-6-phosphate. Patients usually present with hepatic or gastrointestinal symptoms lacking cranial involvement, making their IQ completely normal.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and glycosylation, the latter manifesting as a congenital disorder of glycosylation (CDG). This unique metabolic defect leads to abnormal N-glycan synthesis in the endoplasmic reticulum (ER) and the Golgi apparatus (GA).

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies.

Background And Aims: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam.

Method: LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months.

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

Familial hypobetalipoproteinemia is a codominant disorder characterized by low plasma levels of low-density lipoprotein cholesterol and apolipoprotein B (apoB), which in ∼50% of the cases is due to mutations in APOB gene. In most cases, these mutations cause the formation of truncated apoBs of various sizes, which have a reduced capacity to bind lipids and form lipoprotein particles. Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations.

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia.

Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II.

Sialidosis is a lysosomal storage disease caused by deficiency of α-N-acetyl neuraminidase-1. Sialidosis is classified into two main clinical variants: type I, the milder form of the disease, and type II, which can in turn be subdivided into three forms: congenital, infantile, and juvenile. We report a female patient with sialidosis type II, presenting with the congenital form of the disease with thrombocytopenia, pulmonary interstitial thickening, and transient secondary neonatal hyperparathyroidism.

Quality of life in children treated with restrictive diet for inherited metabolic disease.

Background: The aim of this study was to investigate the quality of life (QoL) of a group of patients with inherited metabolic diseases (IMD) who were treated with restrictive diet.

Method: A total of 68 patients (35 boys, 51.5%; 33 girls, 48.

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.

Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder caused by mutations in the G6PC gene encoding glucose-6-phosphatase (G6Pase), a key enzyme for the maintenance of glucose homeostasis. Molecular analysis is a reliable and accurate way of diagnosing GSD Ia without to need for invasive liver biopsies for enzyme tests. In some ethnic groups and geographic regions, allelic homogeneity was detected in GSD Ia.

Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation.

Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described.

Hypercalcemia in glycogen storage disease type I patients of Turkish origin.

Glycogen storage disease type I (GSD I) is an autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-a (G6Pase) catalytic unit characterizes GSD IA and defects in the glucose-6-phosphate transporter protein (G6PC) characterize GSD IB. The main clinical characteristics involve fasting hypoglycemia, hyperuricemia, hyperlactatemia, and hyperlipidemia.

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.

Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1-4].

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.

Introduction: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy.

Results And Discussion: It is often misdiagnosed as anorexia nervosa or intestinal pseudoobstuctions and are unnecessarily treated with surgery. It has been established that MNGIE is caused by mutations in the gene encoding thymidine phosphorylase, which lead to absolute or nearly complete loss of its catalytic activity, producing systemic accumulations of its substrates, thymidine and deoxyuridine.

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.

A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who was the index patient, was admitted to the hospital with atonic seizure. His brother had delayed language development and their uncle had been followed with diagnosis of epilepsy for the last 5 years.

Factors related to non-alcoholic fatty liver disease in obese children.

Background/aims: The incidence of non-alcoholic fatty liver disease has been increasing parallel to obesity in the pediatric age group. This study aimed to analyze the factors that are related to non-alcoholic fatty liver disease in obese children.

Methods: 101 obese children and 68 non-obese controls were included in the study.

Lipid apheresis applications in childhood: experience in the University Hospital of Gazi.

The most commonly encountered complications in familial hypercholesterolemia (FH) are mainly cardiovascular in origin and the majority of cases unfortunately die due to this problem. LDL-apheresis is a proven therapeutic method in lowering this mortal risk. In this study we aimed to demonstrate the efficiency of LDL-apheresis performed by DALI or Cascade filtration on four pediatric patients with the diagnosis of homozygous FH.