Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders.
The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more than 1,500 patients suspected of having an organic acid disorder (OAD) during a period of four years. Of these, 307 patients suspected of having an organic acid disorder (OAD) during a period of four years. Of these, 307 patients, approximately 20%, had a clearly identifiable disorder. Identified OAD's constituted one-quarter of all patients diagnosed as having various types of inborn errors of metabolism during this period, in these clinical services. Prolonged follow-up was available in the majority of cases, allowing detailed clinical, neuroradiologic and neurophysiologic descriptions. Fifty patients (16%) had rare disorders by standards in the West. Approximately 25% were 'neurologic organic acidurias.' This is a new term we are introducing for OAD's manifesting primarily with neurologic signs, but without appreciable acidosis, hypoglycemia or hyperammonemia. In this special issue, we present the KFSH&RC experience with the rare disorders as individual articles. We estimate the frequency of OAD's in Saudi Arabia as 1/740 births. The increased frequency of OAD's in Saudi Arabia is probably due to increased consanguinity, since most OAD's occurred in excess in certain tribes; and due to increased surveillance and testing by our group. Saudi Arabia provides a unique opportunity for research in this area of pediatrics.
Rashed
M
M
Department of Pediatrics, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.
Ozand
P T
PT
al Aqeel
A
A
Gascon
G G
GG
D001928:Brain Diseases, Metabolic / Q000453:epidemiology / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000453:epidemiology / Q000378:metabolism* / Q000503:physiopathology; D012529:Saudi Arabia / Q000453:epidemiology