Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya

Abstract

Background: Inborn errors of metabolism (IEM) are mostly transmitted as autosomal recessive disorders and are therefore more frequent in countries with high consanguinity rates such as in the Arab world. Objective: To study the socio-demographic characteristics and the clinical presentation of IEM in Libyan children and to shed light on our experience in dealing with these disorders. Methods: This is a descriptive case series hospital-based study of 107 children attending the Metabolic Unit at El-Khadra Teaching Hospital (MUKH) in Tripoli, Libya. The study took place between January 2001 and December 2012. Information was collected from caregivers and from all available hospital records on the following variables: age, sex, birth order, place of residence, age at onset, presenting complaints and family history of the same illness. Results: During the 12-year study period, there were 55,422 live births at El-Khadra Teaching Hospital and 107 children were diagnosed with 46 different metabolic disorders. A significantly high consanguinity rate was observed (86.9%) among parents of the affected children. Family history of previous affected children was noted in 63.5% of cases. Male to female ratio was 1.18:1. The most frequent IEM cases were amino acids disorders (25%), carbohydrate disorders (14.9%), lysosomal storage diseases (14%), organic aciduria and energy metabolic defects (9.3% each). The main clinical presentations were jaundice, hepatomegaly and seizures. Most children presented between one and six months of age (43.4%); whereas the median age at diagnosis was eight months. Thirty-eight children (35.5%) were born at El-Khadra Hospital with IEM giving a birth prevalence of 1:1458 live births, (1:6158 for aminoaciduria and 1:6927 for carbohydrate disorders). Conclusion: IEM disorders are common in Libya. Efforts to enhance awareness among pediatricians and primary healthcare providers should be supported and encouraged as many diseases are still undiagnosed. It is very important to consider IEM among all children when they present any worrying or suspicious symptoms or signs which do not respond to conventional treatment. Although our findings are preliminary, and probably the first to be conducted in Libya, they suggest ideas for decision makers to plan services including newborn screening programs and country-wide research of IEM diseases.

Screening of Egyptian Pateints Suffering From Inborn Amino Acid Metabolic Disorders

“…Consanguineous marriages are very common in Egypt (35.3%) (Shawky et al, 2011) which lead to increase the risk of metabolic disorders. In this study, consanguinity was high (72%) and 26.5 % of the families were found to have a positive family history of an IEM or of unexplained death among their families which with other studies done in Oman (Al Riyami et al, 2012), Jordan (Al-Qaqa et al, 2012) and libya (Alobaidy, 2013). These findings are consistent with the recessive autosomal inheritance of IEMs and reflect the significant contribution of consanguinity in Egypt in this particular health problem.…”

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates

“…Newborn screening is an effective and important preventive measure [12]. Thus, in countries with no mandatory NBS programs, selective screening could be an important diagnostic tool for diagnosing IEMs.…”

Current status of newborn screening worldwide: 2015

“…Thus, much of the NBS effort within the region has focused on continued assessment of CH screening protocols and treatment outcomes. [102][103][104] Because hemoglobinopathies (Hbs) and metabolic conditions are also prevalent, and in order to influence policy makers, studies within the region have often focused on the incidences of various metabolic conditions [105][106][107][108] and Hbs 109,110 (although in the case of Hbs, there is competing emphasis on prevention strategies). Several NBS cost-effectiveness studies have also been completed in various countries.…”