Hyperpipecolatemia
Overview
A rare metabolic disorder characterized by high blood levels of pipecolic acid.
Symptoms
* Enlarged liver * Nerve demyelination * Neurological symptoms
Causes
* Liver cirrhosis * Alcoholic liver cirrhosis * Hemochromatosis * Liver abscess * Liver cysts (see Liver symptoms) * Hydatid cyst of the liver * Polycystic liver disease * Hepatic vein thrombosis * Budd-Chiari syndrome * Fatty liver
Diagnosis
* Inspect color of skin and sclera for jaundice (yellowing) * Palpate the liver and determine the extent of the enlargement and also determine if liver is tender. A tender enlarged liver may suggest viral or toxic hepatitis, congestive heart failure, primary liver cancer and ascending cholangitis * Palpate for enlarged spleen. If both liver and spleen is enlarged may suggest alcoholic cirrhosis, amyloidosis, reticuloendotheliosis, hemolytic anemias, biliary cirrhosis, myeloid metaplasia, systemic lupus erythematosus, acute viral hepatitis, infectious mononucleosis, cytomegalovirus and various parasitic diseases. If the spleen enlargement is massive this is characteristic of Gaucher's disease, kala azar and myeloid metaplasia