Abstract Background Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders caused by enzyme deficiencies in glycogen catabolism. GSD type Ia is a congenital deficiency of the enzyme responsible for the final step in glucose production by glycolysis, resulting in impaired carbohydrate metabolism. Case presentation A 14-year-old boy with GSD type Ia was scheduled for a maxillary cystectomy under general anesthesia. He was taking oral sugars such as uncooked cornstarch regularly to prevent hypoglycemia. Perioperatively, glucose was administered via the peripheral vein for fasting; however, severe lactic acidosis occurred. He also developed hypercapnia because of intraoperative poor ventilation caused by hepatomegaly. C...
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme ...
A 21-month-old boy with previously diagnosed type 1 diabetes was admitted to our unit, presenting wi...
Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzym...
Abstract Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degr...
Abstract Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes s...
Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fas...
Glycogen storage disease type III results from a deficiency of the enzyme, amylo-1,6-glucosidase, wh...
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely eleva...
Abstract Background Glutaric acidemia is a type of multiple acyl-coenzyme A dehydrogenase deficiency...
Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defecti...
Background: Glycogen storage disease (GSD) type IIIa is a rare inborn error of metabolism characteri...
Background: GLUT1-deficiency-syndrome (G1DS) is an autosomal dominant genetic disorder based on a mu...
ABSTRACT Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in pa...
Glucose is the metabolic fuel for most tissues in the body while other substrates such as lactate an...
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme ...
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme ...
A 21-month-old boy with previously diagnosed type 1 diabetes was admitted to our unit, presenting wi...
Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzym...
Abstract Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degr...
Abstract Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes s...
Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fas...
Glycogen storage disease type III results from a deficiency of the enzyme, amylo-1,6-glucosidase, wh...
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely eleva...
Abstract Background Glutaric acidemia is a type of multiple acyl-coenzyme A dehydrogenase deficiency...
Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defecti...
Background: Glycogen storage disease (GSD) type IIIa is a rare inborn error of metabolism characteri...
Background: GLUT1-deficiency-syndrome (G1DS) is an autosomal dominant genetic disorder based on a mu...
ABSTRACT Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in pa...
Glucose is the metabolic fuel for most tissues in the body while other substrates such as lactate an...
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme ...
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme ...
A 21-month-old boy with previously diagnosed type 1 diabetes was admitted to our unit, presenting wi...
Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzym...