Clinical onset and prognosis of Asian children with
organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
In addition to TMS, it is also desirable to add 3 more techniques for a complete screening program: 1) Gas chromatography and mass spectrometer for urine organic acid analysis to confirm diagnosis of
organic acidemia and certain fatty acid oxidation disorders; 2) An amino acid High Performance Liquid Chromatography (HPLC) to confirm diagnosis of aminoacidopathies; and 3) AutoDELFIA system for the diagnosis of disease that cannot be identified by TMS namely congenital hypothyroidism, biotinidase deficiency, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, etc.
The subject of numerous articles and reviews, this application remains the keystone for clinical diagnosis of
organic acidemias (21-24).
Furthermore, we have found deaths attributable to underlying metabolic disease in infants and children that should have been identified by illness, i.e., several
organic acidemias. Our findings include
organic acidemias and one case of MSUD, an amino acid disorder.
Just over a year ago, when their son, Mubashir, was born, the Younis family lived in Massachusetts, a state that has implemented expanded screening that includes
organic acidemia disorders.
Sigma-Tau has provided financial support for various patient advocacy groups, including the Alzheimer's Association, Alzheimer's Disease International, Assistance for Babies and Children with Carnitine Deficiency, the Fatty Acid Oxidation Disorder Network, the French Foundation for Alzheimer's Disease, the Mitochondrial Disorders Foundation of America, the National Organization for Rare Disorders (NORD), Neurofibromatosis, Inc., and the
Organic Acidemia Association.
in the 1960s, determination of organic acids in biological samples has become an important tool for detection and diagnosis of
organic acidemia [e.g., methylmalonic acidemia (MMA), medium-chain acyl CoA dehydrogenase deficiency, etc.] [1] (2).
INDEXING TERMS: amino acids *
organic acidemia * defects of fatty acid oxidation * inherited disorders * neonatal screening
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.
These cutaneous lesions have been described during treatment of aminoacidopathies (MSUD) [4, 5] and
organic acidemias (methylmalonic acidemia, glutaric aciduria, and propionic acidemia) [6, 7] due to deficiency of isoleucine.
(1-4,7,9) Health care professionals in areas where consanguinity is prominent should be vigilant for MMA and other
organic acidemias, as there is a higher prevalence of the disorders in such areas.
INTRODUCTION: The metabolic errors are caused due to lack or deficiency of key enzyme or coenzyme of an intermediary metabolic pathway causing urea cycle defects, aminoacidopathies,
Organic acidemias, fatty acid oxidation defects and errors in energy metabolism.
More than 50 phenotypically different
organic acidemias have been discovered since the first known disease of this type, isovaleric acidemia, was described in 1966.
