Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The fat overload syndrome developed in a 7-year-old girl who was on home TPN which included 20% Intralipid (total lipid dose 3.2 g/kg/d). Acute respiratory insufficiency developed with cough, dyspnea, tachypnea, and cyanosis. The chest x-ray revealed mild cardiomegaly and pulmonary edema. Blood gases showed profound hypoxia (PaO2 29 torr on room air). Spontaneous resolution occurred over the next seven days as the lipemia cleared.
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PMID:Fat overload syndrome causing respiratory insufficiency. 644 Sep 70

Fructose-1,6-diphosphatase (FDPase) enzyme deficiency is a rare inherited metabolic disease. Affected patients usually present with metabolic crisis including hypoglycemia, acidosis, ketonuria, and hyperuricemia. A previously healthy 8-month-old male infant presented with fever, vomiting, and hypoactivity. He had tachycardia, tachypnea, and a tendency to sleep. The patient had signs of severe dehydration and shock. Laboratory findings revealed significant lactic acidosis, hyperuricemia, hyperglycemia, elevated liver enzyme level, and hyperlipidemia. The urine analysis had evidence of glycosuria and ketonuria. Hyperuricemia, lactic acidemia, and hyperglycemia persisted despite insulin infusion, adequate hydration, and perfusion. Consequently, peritoneal dialysis was started. About 12 hours after dialysis, his metabolic derangements were normalized, and clinical status was improved dramatically. His metabolic disease workup was compatible with FDPase deficiency. Here, we described a metabolic attack of FDPase deficiency presented with hyperglycemia mimicking diabetic ketoacidosis.
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PMID:Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis. 2215 80

An adult male chinchilla (Chinchilla lanigera) presented with severe lethargy and tachypnea; the physical examination was otherwise unremarkable. Due to the animal's clinical condition, it was submitted for necropsy but died immediately prior to euthanasia. Clinicopathologic findings included leukocytosis with a left-shift neutrophilia and lymphopenia, azotemia, hyperphosphatemia, hyperglycemia, hyperlipemia, electrolyte imbalance, cholestasis, and hepatocellular damage. Neutrophilic enteritis with gramnegative bacterial colonization, hepatic lipidosis, interstitial pneumonia, suppurative tubulonephritis, erosive gastritis, cerebral edema, and lymphoid depletion were present microscopically. Attaching and effacing, eae-positive, Escherichia coli characterized by the presence of the intimin virulence factor was isolated from both the kidney and spleen. The cause of death was attributed to acute E. coli septicemia and subsequent disseminated intravascular coagulation.
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PMID:Enteric infection and subsequent septicemia due to attaching and effacing Escherichia coli in a Chinchilla. 2432 26

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.
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PMID:A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia. 3098 26