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Nicklaus Children’s Hospital has several outpatient and urgent care centers throughout South Florida, including on-demand, virtual care.
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Also known as: inherited metabolic disease of the liver.
Certain disorders that children are born with can make it difficult for the liver to process certain nutrients, such as fats, proteins or carbohydrates. This group of disorders is known as genetic/metabolic diseases of the liver. Some of the names of these disorders include but are not limited to Wilson’s disease, Alpha-1 Antitrypsin deficiency, GALD (Gestational Alloimmune Liver Disease), fatty acid oxidation defects, glycogen storage deficiencies, galactosemia, lipid storage diseases, tyrosinemia, urea cycle disorders, and peroxisomal disorders.
As the name suggests, these disorders are due to a genetic mutation that a child is born with.
Reviewed by: John M. Peters, DO
This page was last updated on: January 04, 2022 12:10 PM
Metabolic storage diseases are a fairly large group of rare genetic inherited disorders in which specific enzymes of a child's cell are insufficient. Enzymes help break down certain materials within the cell for proper cell function.
When urine is healthy and a person is properly hydrated, urine is a light yellow, straw-like color.
Albumin is a protein produced by the liver that circulated in the blood. An albumin blood serum level is a common blood test that determines the levels of albumin in the blood. It’s useful for diagnosing a number of medical conditions, including liver and kidney diseases and in some cases nutritional status.