a laboratory test of the urine which will contain an abnormally high amount of amino acids (aminoaciduria).
A diagnosis of Niemann-Pick disease is confirmed by analyzing a sample of tissue.
The diagnosis can be confirmed by a blood test to measure for alpha-galactosidase A.
ataxia, rash, mental and psychiatric abnormalities
Eating a healthy, high protein diet
Prenatal diagnosis of Types A and B of NPD can be done with amniocentesis or chorionic villus sampling.
The condition is passed on genetically in families. It occurs when a person inherits two recessive genes for the disease, one from each parent
Diagnosis must then be confirmed through laboratory tests.
Lou Gehrig's diagnosis was confirmed on June 19, 1939. It was on his 36th birthday.
John Hartnup Jr. was born in 1841.
John Hartnup Jr. died in 1892.
Mental retardation, cerebral ataxia (muscle weakness), and delirium (a confused, agitated, delusional state)
The biopsy confirmed the diagnosis of bladder cancer.