Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

The presence of fibrosis affecting the interlobular stroma of liver.

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

An anomalous build up of copper (Cu) in the liver.

Concentration of vitamin A below the lower limit of normal in the blood circulation.

The concentration of vitamin D in the blood circulation is below the lower limit of normal.

A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

A reduced concentration of chenodeoxycholic acid in the blood circulation.