Havva Yazıcı

Ege University · Department of Pediatrics, Division of Metabolism and Nutrition

Aim Elevated levels of cholesterol in the bloodstream, also referred to as hypercholesterolemia, pose a significant risk for the onset of cardiovascular and cerebrovascular diseases. Oxysterols, cholesterol-derived oxidized compounds that form enzymatically or non-enzymatically, contribute to the development of atherosclerosis and coronary artery d...

Background Autosomal recessive hypercholesterolemia (ARH) is an ultrarare dyslipidemia caused by variants in the LDLRAP1 gene. Clinically, this condition is indistinguishable from other homozygous familial hypercholesterolemia (HoFH). Case We present the cases of two siblings diagnosed with ARH caused by LDLRAP1 gene c.617-14C>A splicing homozygous...

Congenital heart disease (CHD) is one of the most common chronic pediatric conditions, exerting a substantial impact on the lives of children and families. The assessment of children's quality of life gained prominence in the 1980s and is now widely used in clinical practice for comparing treatment options and evaluating their efficacy. We applied...

Aim The aims of reporting these cases were to better characterise the phenotypic and genotypic features of a large group of Turkish Mucopolysaccharidosis type II (MPS II) patients from two different parts of Turkey and to describe the clinical outcomes of these patients after initiating enzyme replacement therapy (ERT) to varying ages in real-life...

Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform eryt...

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive seri...

Dismorfizm, insan vücudunda doğuştan gelen normal morfoloji dışındaki gelişimsel bozukluktur. Doğumsal gelişimsel kusurlar izole olabileceği gibi çoklu da olabi-lir. Çoklu doğumsal oluşum bozuklukları daha çok gö-rülmektedir. İzole birincil bozukluk varsayılan nedene göre malformasyon, displazi, deformasyon ve disrup-siyon olarak sınıflanabilir. Bu...

Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusio...

Galactosemia is an inherited disease that occurs as a result of insufficient or no synthesis of some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make an early diagnosis, especially in newborns, can lead to severe clinical and even fatal consequences. The aim of this study is to develop a biosensor for measuring free galactose...

Recently, it has been shown disturbances in oxidant/antioxidant system and increases in some inflammatory markers in animal studies and in some Mucopolysaccharidoses (MPSs) patients. In this study, we aimed to determine the oxidative stress/antioxidant parameters and pro-inflammatory cytokine levels in the serum of MPS patients, in order to evaluat...

Objectives Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from in...

Objective: Coronavirus disease 2019 (COVID-19) causes significant morbidity and mortality in individuals with chronic disease. There is not enough information about the course of coronavirus disease in lysosomal storage diseases. This study aimed to evaluate coronavirus disease vaccination status and the impact of coronavirus disease on lysosomal...

Background: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem ce...

Objectives: Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of CDG patients from different subtypes. Methods: The clinical and laboratory findin...

ÖZET Mitokondriyal yağ asidi oksidasyonu (mYAO) uzamış açlık, ateş, aşırı egzersiz ve diğer katabolik süreçlerde enerji elde edilmesini sağlayan ana yoldur ve kalp, iskelet kası ve böbreklerde ana enerji kaynağıdır. mYAOB yağ asidlerinin taşınmasında veya yağ asidlerinin oksidasyonunda bozulma sonucu ortaya çıkan heterojen bir hastalık grubudur. Kl...

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplant...

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis; hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a mild AADC deficiency presenting with hypoglycemia without a neurological sign....

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was...

Aim: During the coronavirus disease-2019 (COVID-19) pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic illnesses. Telemedicine may offer a good option for the management of chronic diseases such as lysosomal storage diseases (LSD). Materials and Methods: LSD patients at the Unit of Metabolic Dis...

Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation attacks. Case. Herein we report a patient diagnosed with MCE deficiency with recurrent acute metabolic ketoac...

While Mucopolysaccharidoses-2 (MPS-2) is characterized by iduronate sulfatase enzyme deficiency and increased Heparan sulphate (HS) and dermatan sulphate (DS); MPS-3 is sulfamidase, N-Acetyl-α-glucosaminidase, Acetyl-CoA: α-glucosamine N-acetyl transferase or N-Acetylglucosamine-6-sulfatase deficient and accumulates HS. HS plays an important role i...

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow‐up of 13 patients with a confirmed MNG...

Objectives Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. Homogentisic acid produced in excess oxidizes into ochronotic pigment polymer. Accumulation of this pigment in various tissues leads to systemic disease....

Porfiriler hem biyosentezinde görevli enzimlerin doğuştan yada kazanılmış bozukluğu, yada eksikliği sonucu oluşan, periferik ve santral sinir sistemini etkileyebilen, farklı alt tipleri olan, nadir görülen metabolik hastalıklardır. Akut intermittan porfiri, porfirilerin en yaygın görülen tipidir ve nöropsikyatrik belirtilerle birlikte açıklanamayan...

Rhabdomyolysis is a clinical emergency that can result in life-threatening complications. The etiology for rhabdomyolysis is broad. Infecitons are the most common cause in pediatric patients. Underlying inherited metabolic diseases are also a cause of rhabdomyolysis and can often have a diagnostic challenge, considering their marked heterogeneity a...

Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene. Mineralization defect in bones and teeth, abnormal respiratory function, seizures, hypotonia, bone pain, and nephrocalcinosis can be observed. Clinical forms are usually recognized based on age at diagnosis and severity of features. We present an infant with a...

Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We pr...

Amaç: Mukopolisakkaridozlar (MPS); glikozaminoglikanların (GAG) lizozom içerisinde yıkılamaması sonucu çoklu sistem tutulumlarına neden olan heterojen bir hastalık grubudur. MPS II ve III’ de santral sinir sistemi tutulumu daha ön plandadır. Erken dönemde bilişsel gerilik, davranış problemleri, ilerleyici davranış-uyku problemleri, gecikmiş konuşma...

Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenting two siblings with GALM deficiency; one patient presented with cataracts and her brother was asymptomatic....

Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. Methods We analyzed clinical, biochemical, and molecular data of nine patients with suspected BH4 deficiency. All patie...

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the “α-L-iduronidase”. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzyme replacement therapy and haematopoietic stem cell transplantation (HSCT). Pulmonary haemorrhage (PH)...

Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous muta...

Türkiye’de akraba evliliği, bölgesel farklılık göstermekle birlikte ortalama %20-25 oranında bildirilmektedir. Bu durum otozomal resesif (OR) geçişli hastalıklar için yüksek riskli bir popülasyon ortaya koymaktadır. Yenidoğan döneminde özellikle OR geçişli hastalıklar açısından tarama yapmak efektif sonuçlar ortaya koyabilmektedir. Biz burada yenid...

Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%–30% enzyme activity) and profound deficiency (0%–10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify th...

Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular carcinoma can be seen as a long-term complication. An effective treatment has been available wi...

Aim:Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B non-neuronopathic dis...

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed w...

Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these patients. We want to mention that the patients with HTI have heterogeneous clinic. Early diagnosis...

Aim:Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coarse facial features.Materials and Methods:We retrosp...

Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of...

Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, biochemical and molecular characteristics of fiftee...

INTRODUCTION: Two defects of ketogenesis have been reported in the human so far; mitochondrial 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3-glutaryl CoA lyase (HL) deficiencies. Defects of ketone utilization (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoace...

Amaç: Mukopolisakkaridoz (MPS) tip IVa (Morquio Sendromu) otozomal resesif geçişli N-asetilgalaktozamin-6- sulfataz eksikliği sonucu görülen multisistemik tutulum gösteren bir hastalıktır. İskelet sisteminin etkilenmesi temel bulgudur ve odontoid hipoplaziye bağlı servikal miyelopati ve atlantoaksiyal subluksasyona bağlı ağır nörolojik komplikasyon...

Aim:Mucopolysaccharidosis(MPS)type IVa(Morquio Sydrome)is a disease that makes multisystemic uptake observed as a result of N-acetylgalactosamine6sulfatase deficiency with autosomal recessive transition.The effect on the skeletal system is the main finding and there is a high risk of cervical myelopathy due to odontoid hypoplasia as a result of the...