Detection of various Organic acids (OA) and their metabolites is the key to the diagnosis of not only organic acidemias, but through testing of certain metabolites like homogentisic acid, orotic acid and succinyl acetone, a range of conditions like homocystinuria, ornithine transcarbamoylase
deficiency, and tyrosinemia Type-12, can be detected on this panel.
It has been shown that normal human brain has very low or no ornithine transcarbamoylase
(OTC) activity, thus preventing urea cycle activity .
Gene therapy met a particularly precipitous defeat with the much-publicized death of 18-year-old Jesse Gelsinger, a gene therapy patient who suffered from ornithine transcarbamoylase
(OTC) deficiency is the only X-linked recessive urea cycle disorder.
Adult polycystic kidney disease Achondroplasia [Alpha.sub.1]-antitrypsin deficiency Breast cancer(*) Canavan disease Charcot-Marie-Tooth disease Congenital adrenal hyperplasia Cystic fibrosis Duchenne/Becker muscular dystrophy Hereditary thrombotic predisposition (Factor V mutation) Familial adenomatous polyposis Familial hypercholesterolemia Fragile X syndrome Galactosemia Gaucher disease Hemophilia A and B Huntington's disease Marfan syndrome Mitochondrial disorders Myotonic dystrophy Neurofibromatosis types 1 and 2 Ornithine transcarbamoylase
(OTC) deficiency Phenylketonuria Spinal muscular atrophy Spinocerebellar ataxia Sickle-cell disease Tay-Sachs disease [Alpha] and [Beta]-thalassemia Tuberous sclerosis(*) Von Hippel-Lindau disease(*)
Mutations and polymorphisms in the human ornithine transcarbamoylase