Liver hypoglycemia

The patient thus may have an enlarged liver, hypoglycemia, elevated uric acid, serum acidosis with elevated pyruvate and lactate, hyperlipidemia, and growth retardation. 

Glycogen synthase Liver Hypoglycemia, hyperke-tonemia, FTP early death... 

A deficiency of carnitine acyltransferase I in human muscle causes cellular damage and recurrent muscle weakness, especially during fasting or exercise. A deficiency of the enzyme in the liver causes an enlarged and fatty liver, hypoglycemia, and a reduction in the levels of ketone bodies in blood. Explain the likely causes of these symptoms. 

More than half of the patients receiving this drug by the parenteral route experience some adverse reaction. Severe and sometimes life-threatening reactions include leukopenia (low white blood cell count), hypoglycemia (low blood sugar), thrombocytopenia (low platelet count), and hypotension (low blood pressure). Moderate or less severe reactions include changes in some laboratory tests, such as the serum creatinine and liver function tests. Other adverse reactions include anxiety, headache, hypotension, chills, nausea, and anorexia Aerosol administration may result in fatigue a metallic taste in the mouth, shortness of breath, and anorexia... 

Acetaminophen causes few adverse reactions when used as directed on the label or recommended by the primary health care provider. Adverse reactions associated with the use of acetaminophen usually occur with chronic use or when the recommended dosage is exceeded. Adverse reactions to acetaminophen include skin eruptions, urticaria (hives), hemolytic anemia, pancytopenia (a reduction in all cellular components of the blood), hypoglycemia, jaundice (yellow discoloration of the skin), hepatotoxicily (damage to the liver), and hepatic failure (seen in chronic alcoholics taking the drug). 

Glycogenosis type VI (liver myophosphorylase deficiency) gives rise to hepatomegaly and hypoglycemia in childhood. The enzyme involved is under separate genetic control from the muscle isoform and has been assigned to chromosome 14. 

D-Fructose Fruit juices. Honey. Hydrolysis of cane sugar and of inulin (from the Jerusalem artichoke). Can be changed to glucose in the liver and so used in the body. Hereditary fructose intolerance leads to fructose accumulation and hypoglycemia. 

Type 1 Von Gierke s disease Deficiency of glucose-6-phosphatase Liver cells and renal tubule cells loaded with glycogen. Hypoglycemia, lactic-acidemia, ketosis, hyperlipemia. 

Type VI Hers disease Deficiency of liver phosphorylase High glycogen content in liver, tendency toward hypoglycemia. 

Glucagon is secreted as a response to hypoglycemia and activates both glycogenolysis and gluconeogenesis in the liver, causing release of glucose into the blood. 

Inherited defects in the enzymes of (3-oxidation and ketogenesis also lead to nonketotic hypoglycemia, coma, and fatty hver. Defects are known in long- and short-chain 3-hydroxyacyl-CoA dehydrogenase (deficiency of the long-chain enzyme may be a cause of acute fetty liver of pr nancy). 3-Ketoacyl-CoA thiolase and HMG-CoA lyase deficiency also affect the degradation of leucine, a ketogenic amino acid (Chapter 30). 

Fructose-1,6-bisphosphatase deficiency, first describ ed by Baker and Winegrad in 1970, has now been reported in approximately 30 cases. It is more common in women and is inherited as an autosomal recessive disorder. Initial manifestations are not strikingly dissimilar from those of glucose-6-phosphatase deficiency. Neonatal hypoglycemia is a common presenting feature, associated with profound metabolic acidosis, irritability or coma, apneic spells, dyspnea, tachycardia, hypotonia and moderate hepatomegaly. Lactate, alanine, uric acid and ketone bodies are elevated in the blood and urine [11]. The enzyme is deficient in liver, kidney, jejunum and leukocytes. Muscle fructose-1,6-bisphosphatase activity is normal. 

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is distinctly rare and even more devastating clinically than deficiencies of glucose-6-phosphatase or fructose-1,6-bisphosphatase. PEPCK activity is almost equally distributed between a cytosolic form and a mitochondrial form. These two forms have similar molecular weights but differ by their kinetic and immunochemical properties. The cytosolic activity is responsive to fasting and various hormonal stimuli. Hypoglycemia is severe and intractable in the absence of PEPCK [12]. A young child with cytosolic PEPCK deficiency had severe cerebral atrophy, optic atrophy and fatty infiltration of liver and kidney. 

In liver phosphorylase deficiency (glycogenosis type VI, Hers disease Fig. 42-1) and in two genetic forms of phosphorylase kinase deficiency, one of which is X-linked recessive, the other of which is autosomal recessive, hypoglycemia is either absent or mild. Symptoms of brain dysfunction do not usually occur (type VIII, Fig. 42-1) [1],... 

Answer C. Severe hypoglycemia lowers the insulin level and increases glucagon. This would favor fatty acid release from the adipose and ketogenesis in the liver. 

Cataracts in early childhood 1 1 Cataracts often within a few days of birth Vomiting and diarrhea after milk ingestion Jaundice and hyperbilirubinemia Hypoglycemia may be present Liver disease and cirrhosis Lethargy, hypotonia Mental retardation... 

Benign Not evident while sole nutrition is breast milk Severe hypoglycemia and lactic acidosis after fructose ingestion Vomiting, apathy, diarrhea Liver damage and jaundice Proximal renal tubule disorder resembling Fanconi syndrome Treatment eliminate sources of fructose from diet... 

III Cori Glycogen debranching enzyme Mild hypoglycemia, liver enlargement Short outer branches Single glucose residue at outer branch... 

Metformin, a biguanide derivative, can lower excessive blood glucose levels, provided that insulin is present Metformin does not stimulate insulin release. Glucose release from the liver is decreased, while peripheral uptake is enhanced. The danger of hypoglycemia apparently is not increased. Frequent adverse effects include anorexia, nausea, and diarrhea Overproduction of lactic acid (lactate acidosis, lethality 50%) is a rare, potentially fatal reactioa Metformin is used in combination with sulfony-lureas or by itself. It is contraindicated in renal insufficiency and should therefore be avoided in elderly patients. 

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