Mehtap Kağnıcı

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. Case Report: Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest. Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome.

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

Ad dress for Cor res pon den ce Ebru Canda MD, Ege University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition, İzmir, Turkey Phone: +90 232 290 12 45 E-mail: ebru.canda@gmail.com ORCID ID: orcid.org/0000-0002-9175-1998 Re cei ved: 07.10.2018 Ac cep ted: 17.10.2018 1Ege University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition, İzmir, Turkey 2Ege University Faculty of Medicine, Department of Biochemistry, İzmir, Turkey 3Ege University Faculty of Medicine, Department of Pediatrics, Division of Cardiology, İzmir, Turkey Ebru Canda1, Melis Köse1, Mehtap Kağnıcı1, Meral Dondurmacı2, Sema Kalkan Uçar1, Eser Sözmen2, Reşit Ertürk Levent3, Mahmut Çöker1

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. Severe congenital neutropenia (SCN) is a rare disease entity which is characterized by a paucity of peripherally circulating neutrophils with arrest of neutrophil maturation at the promyelocyte stage and consequent increased susceptibility to severe and recurrent infections. We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. In contrast to his expired siblings he had experienced no severe infections. These clinical observations suggest that enzyme replacement therapy may display a modulating factor with respect to the clinical course of SCN. SYNOPSIS: Our patient is the only report of the combination of Gaucher Disease and Kostmann Syndrome in the literature. The clinical course of our patient is not severe when comparing with exitus siblings and other Kostmann Syndrome patients. But when considering the patients only clinical difference is ERT, this case is very important to emphasise the role of enzyme replacement therapy in bone marrow.

Nonketotic Hyperglycinemia in the Neonatal Period: Clinical Features, Diagnosis and Treatment

Nonketotic hyperglycinemia, is a recessively inherited autosomal disorder of the amino acid metabolism caused by a deficiency in the mitochondrial glycine cleavage system. Neonatal type is the most common form. Infants are usually normal at birth and clinical manifestations such as severe hypotonia, poor feeding, seizures, and lethargy progressing rapidly to a deep coma are seen during the first few days of life. Majority of the affected infants die during the first weeks of life. Those who survive develop severe neurological sequelae. The aim of this case series is to evaluate the clinical features, treatment approaches and short term prognosis of the infants diagnosed with neonatal nonketotic hyperglycinemia during the last 5 years in our department. Data were collected retrospectively from patients’ files whose postnatal age at diagnosis varied between 2 to 14 days. All patients were admitted with failure to suck and lethargy, and all had severe hypotonia and decreased newborn reflexes on physical examination. Four patients developed resistant myoclonic seizures and deep apnea requiring mechanical ventilation support. In all patients diagnosis was made based on high plasma and cerebrospinal fluid glycine levels. Genetic study could be performed in only one patient. However enzymatic analysis could not be performed in any patient. All patients demonstrated pathological neuroimaging results, and electroencephalographic abnormalities including multifocal epileptiform abnormalities and “burst supression” patterns in four patients. All patients received low protein diet and drugs reducing plasma glycine levels. Treatment-refractory seizures could only be controlled by levetiracetam in four patients. While two patients died during follow-up, and remaining three patients survived with severe neurological sequels. Physicians should consider nonketotic hyperglycinemia in differential diagnosis in our country where consanguineous marriages are frequent, especially when a newborn healthy for a certain time period develops severe hypotonia, resistant seizures and encephalopathy as detected with routine laboratory tests performed during followup period.

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.

In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatments efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease.