Wolman Disease and Cholesteryl ester storage disease are both diagnosed by observation of previous medical history and symptoms, physical exams, laboratory tests also genetic testing. In laboratory test it is expected that the total serum concentration of cholesterol, low density lipoproteins, and triglycerides will be high and the serum concentration of high density lipoproteins are low for a positive result of<unk> . The genetic tests done are: * Single-gene testing * A multigene panel * (If needed) More comprehensive genomic testing Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek.
Acid lipase disease
Glycogen storage disease type 0
Intestinal metabolic bromhidrosis syndrome
Gluten-sensitive enteropathy–associated conditions
Inborn errors of carbohydrate metabolism
Lipoprotein lipase deficiency
Glycogen storage disease type IX
Glycogen storage disease type VI