Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

Abstract

Acylcarnitine profi le (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders. In the present study, acylcarnitines (ACs) were quantifi ed in dried blood spot samples collected from 150 high risk Egyptian newborns and children using LC/MS/MS technique. They were referred to the Biochemical Genetics department in the National Research Center. Their age ranged from 1 to 36 months. Thirty seven patients had abnormal ACP diagnostic of some inherited metabolic disorders and other acquired conditions. The study revealed 5 (13.5 %) with medium chain acyl CoA dehydrogenase defi ciency (MCADD), 1 (2.7 %) with long chain hydroxyacyl CoA dehydrogenase defi ciency (LCHADD), 1 (2.7 %) with multiple acyl CoA dehydrogenase defi ciency (MADD), 28 (75.7 %) with secondary carnitine defi ciency (SCD), 1 (2.7 %) with glutaric aciduria type I (GA I), and 1 (2.7 %) with methylmalonic aciduria (MMA) (Tab. 8, Ref. 39). Text in PDF www.elis.sk. Key words: inborn errors of metabolism, fatty acid oxidation disorders, acylcarnitine profi le, LC/MS/MS.

Inherited metabolic disorders in a cohort of Egyptian children

“…In the current study, out of 320 patients with IEMs, 184 patients (57.5%) had consanguineous parents. This was in line with other studies by El-Mesellamy et al and Selim et al [6,22] in addition, there were a history of previous siblings' death and similar cases in the family (up to 3 children in some cases) in 96/320 (30 %) and 88/320 (27.5%) patients respectively (Table 2). This might not be clarified only by the high consanguinity in Egypt that extends up to 35.3% [23], but also by the fact that most diagnosed IEMs are autosomal recessive which rise in occurrence by consanguineous coupling because relatives more often share abnormal genes innate from a shared ancestor [21].…”

“…Glutaric acidemia (GA) was detected in 40/320 (12.5%): by elevation of glutarylcarnitine (C5DC) in dried blood spot samples. The diagnosis was confirmed by the detection of elevated peaks of urinary glutaric and 3-OH glutaric acids by GC/MS, which are the diagnostic metabolites according to the findings of the researchers [22,27,28].…”

“…Diagnosis was confirmed by the elevated peaks of urinary methylmalonic acid, methylcitric acid, moderate elevation of 3-hydroxy propionic acid, and propionyl glycine detected by GC/MS. The diagnosis was according to the findings of El-Mesellamy et al and Shennar et al [22,27]. It results from either deficiency of the methylmalonyl CoA mutase enzyme or the synthesis of its cofactor Vit B12 [22].…”

“…The diagnosis was according to the findings of El-Mesellamy et al and Shennar et al [22,27]. It results from either deficiency of the methylmalonyl CoA mutase enzyme or the synthesis of its cofactor Vit B12 [22].…”

GAI – distinct genotype and phenotype characteristics in reported Slovak patients

“…Biochemically, GAI is characterised by the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid (not obligatorily) and glutarylcarnitine (C5DC) in the body fl uids (urine, blood, cerebrospinal fl uid) and tissues (33). These metabolites can be analysed by Gas Chromatography/Mass Spectrometry (GC/MS) or by ElectroSpray-Ionisation tandem Mass Spectrometry (ESI-MS/MS).…”