Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders mitochondrial β-oxidation fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present case successful diagnosis and treatment long-chain use 100% m...

Hypoglycemia in a neonate has been defined as blood sugar value below 40mg/dL. Hypoglycemia is encountered in a variety of neonatal conditions including prematurity, growth retardation and maternal diabetes. Screening for hypoglycemia in certain high-risk situations is recommended. Supervised breast-feeding may be an initial treatment option in asymptomatic hypoglycemia. However, symptomatic hy...

Ethel Codner, MD, Sarah E. Flanagan BSc, Francisca Ugarte, MD, Hernán García, MD, Teresa Vidal, MD, Sian Ellard PhD MRCPath, Andrew T. Hattersley, DM, FRCP. : Institute of Maternal and Child Research, School of Medicine, University of Chile, Santiago, Chile; : Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom; 3: Hospital Exequiel González Cortés, Sa...

Drug abuse in pregnancy is not uncommon, and the use of illicit opioids during pregnancy is associated with an increased risk of adverse outcomes. The aim of the study was to assess neonatal outcome of pregnancy with maternal addiction. Materials and Methods:   In this cohort study we assessed 100 pregnant women 15 -49 years old. To identify drug exposure was used self- questionnaire (Self-Repo...

INTRODUCTION Neonatal hypoglycaemia is a common condition that can cause developmental delay. Treatment of neonatal hypoglycaemia with oral dextrose gel has been shown to reverse hypoglycaemia and reduce admissions to neonatal intensive care for hypoglycaemia. An evidence-based clinical practice guideline was written to guide the use of dextrose gel to treat neonatal hypoglycaemia in New Zealan...

Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e. GCK-monogenic diabetes of youth, permanent neonatal diabetes (inactivating mutations), and congenital hyperinsulinism, respectively. Here we present a novel glu...

Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...

A 12-year retrospective study to elucidate the incidence of "fifth day fits" including 127 infants with neonatal convulsions was carried out in the Randers area of Denmark. The incidence of neonatal convulsions was 8.3/1,000 live-born infants. The etiology in 74 cases of latent and 53 cases of convulsive seizures was asphyxia (38%), intracranial hemorrhage (17%), hypoglycaemia (9%), hypocalcaem...

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a disorder characterized by unregulated insulin release, leading to profound hypoglycemia with a major risk of brain damage if not recognized early. The occurrence of PHHI is low in the Western world (~1/50,000 live births), but it can be as high as 1/2,500 live births in communities with high consanguinity. PHHI may be differentiate...

BACKGROUND Neonatal hypoglycemia is common and may cause serious brain injury. Diagnosis is by blood glucose (BG) measurements, often taken several hours apart. Continuous glucose monitoring (CGM) could improve hypoglycemia detection, while reducing the number of BG measurements. Calibration algorithms convert sensor signals into CGM output. Thus, these algorithms directly affect measures used ...