Results 1 to 10 of about 10,623 (193)

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

Journal of Medical Case Reports
Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar, Afaf Alsagheir, Ismail A. Abdullah, Raghad Alhuthil   +3 more
doaj   +1 more source

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome

The Turkish Journal of Pediatrics, 2016
Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed.
Sibel Aka, Yasemin Alanay, Kara E Boodhansingh, Charles A Stanley, Serap Semiz   +4 more
doaj   +1 more source

Transient Neonatal Hypocortisolism in Neonates with Hypoglycemia – Coexistence or Cause?

Indian Journal of Endocrinology and Metabolism
Introduction: Infants born preterm, with low birth weight (LBW), or with perinatal stress are at high risk for neonatal hypoglycemia. Low cortisol levels have also been demonstrated in this group of neonates, which is often transient.
Sunetra Mondal, Lakshmi Nagendra, Amarta S. Chowdhury, Rajan Palui, Soumyadeep Biswas, Devdeep Mukherjee, Krishnendu Khan, Aritra Sengupta, Anupama Pandey   +8 more
doaj   +1 more source

Persistent Hyperinsulinemic Hypoglycemia in Iraqi Pediatric Population: A Single Tertiary Center Experience

Medical Journal of Babylon
Background: Congenital hyperinsulinism (CHI) is an inappropriate insulin secretion by the pancreatic cells. When medical therapies are ineffective, surgical treatment is required. Objective: This study aims to evaluate the clinical characteristics of CHI
Munib Ahmed Al-Zubaidi, Wasnaa Hadi Abdullah, Khalid Hatem Kareem   +2 more
doaj   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +1 more source

Glycaemic control in labour with diabetes: GILD, a scoping study

Health Technology Assessment
Background Diabetes in pregnancy is common, affecting 5–10% of pregnant women. Poor glycaemic control in labour is associated with neonatal hypoglycaemia and other adverse outcomes for mother and baby, but tight glucose control is burdensome, intrusive ...
Nia Wyn Jones, Eleanor J Mitchell, Kate F Walker, Susan Ayers, Lucy Bradshaw, Georgina Constantinou, Tasso Gazis, Shalini Ojha, Phoebe Pallotti, Stavros Petrou, Rachel Plachcinski, Michael Rimmer, Liz Schroeder, Jim G Thornton, Natalie Wakefield   +14 more
doaj   +1 more source

El síndrome metabólico, una epidemia silente The metabolic syndrome, a silent epidemic

Revista Cubana de Investigaciones Biomédicas, 2009
En el presente artículo se hace referencia a la definición, etiopatogenia, diagnóstico y tratamiento del síndrome metabólico, uno de los principales factores de riesgo de la aterosclerosis, caracterizado por alteraciones metabólicas que se expresan en un
José A Castillo Herrera
doaj  

Clinical case of diagnosis and treatment of insulinoma

Клинический разбор в общей медицине
Insulinoma is a rare neuroendocrine pancreatic tumor that typically produces excessive amout of hormone insulin. The main clinical manifestations of insulinoma are episodes of hypoglycemia.
Natalia A. Nikitina, Artyom V. Snitsar , Marina V. Kuandykova, Konstantin A. Pokrovsky, Sergey A. Yerin, Vyacheslav A. Shibitov, Natalia V. Brevnova , Nina A. Petunina   +7 more
doaj   +1 more source

Nesidioblastosis del adulto tras derivación gástrica

Revista Colombiana de Cirugía
La hipoglucemia por hiperinsulinismo endógeno ha sido descrita como una complicación de la cirugía bariátrica. Se presenta el caso de un hombre de 34 años con tríada de Whipple que se manifestó ocho años después de someterse a derivación (bypass ...
Vanessa López, Carlos Alfonso Builes-Barrera, Germán Osorio, Carlos Hernando Morales, Juan Pablo Toro, Alejandro Román-González   +5 more
doaj  

Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With Homozygous <i>ABCC8</i> Mutation: A Case Report. [PDF]

Case Rep Endocrinol
Kansakar P, Gurung G, Bhandari S, Shrestha K, G C B, Thapa S, Acharya R.   +6 more
europepmc   +1 more source