Symptoms and signs
Infants may present with feeding difficulties with frequent vomiting, diarrhea, swelling of the abdomen, and failure to gain weight or sometimes weight loss.As the disease progresses in infants, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (jaundice), and a persistent low-grade fever. An ultrasound examination shows accumulation of chalky material (calcification) in the adrenal gland in about half of infants with LAL-D. Complications of LAL-D progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe anemia), liver dysfunction or failure, and physical wasting (cachexia).People who are older children or adults generally present with a wide range of signs and symptoms that overlap with other disorders. They may have diarrhoea, stomach pain, vomiting, or poor growth, a sign of malabsorption. They may have signs of bile duct problems, like itchiness, jaundice, pale stool, or dark urine. Their feces may be excessively greasy. They often have an enlarged liver, liver disease, and may have yellowish deposits of fat underneath the skin, usually around their eyelids. The disease is often undiagnosed in adults. The person may have a history of premature cardiac disease or premature stroke. Cause
Lysosomal acid lipase deficiency is a genetic disease that is autosomal recessive. It is an inborn error of metabolism that causes a lysosomal storage disease.
Precautions
Pioglitazone/metformin should not be used in people with type 1 diabetes or for the treatment of diabetic ketoacidosis and should be used with caution in people with edema. Serum ALT levels should be evaluated prior to the initiation of therapy with combination of pioglitazone and metformin and periodically thereafter per the clinical judgment of the health care professional. Side-effects
The most common side-effects are upper respiratory tract infection, diarrhea, combined edema/peripheral edema and headache, respectively. Most clinical adverse events were similar between groups treated with pioglitazone in combination with metformin and those treated with pioglitazone monotherapy. Contraindications
Pioglitazone/metformin is contraindicated in people with known hypersensitivity to any components of this combination. These combination also contraindicated in renal disease which may also result from conditions, e.g., acute myocardial infarction, sepsis, acute or chronic metabolic acidosis, including diabetic ketoacidosis, with or without coma. Drug interaction
Pioglitazone/metformin may interact with furosemide, nifedipine, cationic drugs (e.g., amiloride, digoxin, morphine, procainamide, quinidine, quinine, ranitidine, triamterene, trimethoprim, and vancomycin) and certain drugs tend to produce hyperglycemia and may lead to loss of glycemic control (e.g., thiazides and other diuretics, corticosteroids, phenothiazines, thyroid products, estrogens, oral contraceptives, phenytoin, nicotinic acid, sympathomimetics, calcium channel blocking drugs, and isoniazid). References
External links
"Metformin hydrochloride mixture with pioglitazone hydrochloride". Drug Information Portal. U.S. National Library of Medicine.