bola/triglyceride

A female presented in infancy with hypotonia, undetectable serum glucose, lactic acidosis, and triglycerides >5000 mg/dL. The diagnosis of type 1A glycogen storage disease was made via the result of a liver biopsy, which showed increased glycogen and absent glucose-6-phosphatase enzyme activity. The

BACKGROUND Primary intestinal lymphangiectasia is a disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics. Intestinal lymphangiectasia can be primary or secondary, so the diagnosis of primary intestinal lymphangiectasia must first

Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. There is no consensus for dietary treatment in this condition. This case

A 9-y-old girl with ethylmalonic/adipic aciduria was hospitalized to determine the possible therapeutic efficacy of oral carnitine and glycine supplementation. To provoke a mild metabolic stress, her diet was supplemented with 440 mg/kg/d of medium-chain triglycerides. She was treated successively

The patient was an 88-year-old woman with a 10-year history of hypertension. She was suspected to have been hit by a car. At the time of the event, she was conscious and able to stand on her own and had no obvious injuries. She was sent home, but she lapsed into unconsciousness and was nonresponsive

A 70-year-old woman presented at a local clinic because of shortness of breath. Since she was found to have pleural effusion, she was referred to our hospital for further evaluation. She had no history of trauma or surgery. Pleural effusion examination revealed a milky-white, chylous, odorless fluid

A 38-year-old Japanese woman was admitted to hospital for further examination of systemic xanthomas. She had a past history of genital bleeding during her third delivery at the age of 21 years. She was diagnosed with Sheehan's syndrome. Her serum total cholesterol and triglyceride concentrations

BACKGROUND Lipid emulsion is gaining popularity as an antidote for lipophilic drug overdose, and is generally considered safe at doses recommended for antidotal therapy. We report a case of asymptomatic pancreatitis following extended infusion lipid emulsion. METHODS A 14-year-old female presented

A 5-year-old female child, with known systemic juvenile idiopathic arthritis diagnosed at 18 months of age (on low dose Prednisolone + Methotrexate + Leflunomide + Tocilizumab), presented with fever for 1 day, vomiting, drowsiness followed by seizures. On admission to PICU, she was drowsy,

A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic,

We report a case of severe type I hyperlipoproteinemia caused by autoimmunity against lipoprotein lipase (LPL) in the context of presymptomatic Sjögren's syndrome. A 7-year-old mixed race (Caucasian/African American) girl was admitted to the intensive care unit at Vanderbilt Children's Hospital with

Topiramate is a newly developed anticonvulsant agent with possible mood-stabilizing properties. Little is known about the short- and long-term effects of topiramate monotherapy in bipolar disorder. We here present the case of a 60-year-old female bipolar patient who received topiramate alone as

Wolman's disease is a rare inherited disorder of lipid metabolism in which large amounts of triglycerides and cholesteryl esters accumulate in the visceral organs. The main clinical features of the infantile form of the disease are failure to thrive, vomiting and diarrhoea, hepatosplenomegaly and

A 65-year-old woman had been visiting our department for the treatment of type-2 diabetes mellitus since December 2012. Her glycated haemoglobin levels were well controlled (≈5.8% (40 mmol/mol)) by metformin (500 mg). In July 2014, her white cell count increased suddenly to 33 530 cells/μL and she

Both cholesterol and triglyceride levels in serum increase progressively during pregnancy. Hypertriglyceridemia is a well-recognized cause of acute pancreatitis, while pancreatitis-associated chylous ascites has rarely been reported. We report a 28-year-old female with coexistence of