Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease. It is especially good at recognizing the disease in patients older than four years of age. Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis. Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca) aimed at stabilizing the rate of progression of neurological manifestation. The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster. The NP-C disease has heterogeneous neurovisceral manifestations. A SI is a screening tool that helps in diagnostic process. Filipin staining test is a specific biomarker diagnostic test. Miglustat is the first disease-specific therapy.

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.

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Background:Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme.Objectives:This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion] treatment of the disease and evaluates its biochemical markers in 16 pediatric Libyan patients.Patients and Methods:The diagnosis was based on presence of high tyrosine levels in blood and succinylacetone in urine.Results:The consanguinity rate was 81.2%, the median age at onset, at diagnosis and at starting treatment were 4.5, 8, and 9.5 months respectively. At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. All patients had extremely high alpha fetoprotein (AFP) and high alkaline phosphatase (ALP) levels. Fifteen patients were treated with NTBC, normalization of PT (Prothrombine time) was achieved in average in 14 days. The other biochemical parameters of liver function (transaminases, GGT, ALP, bilirubin and albumin) took longer to improve and several months to be normalized. Survival rate with NTBC was 86.6%. Patients who started treatment in a median of 3 months post onset observed a fast drop of AFP in 90.6% of patients (P = 0.003). Abnormal liver function and rickets were the common presentations, GGT was an early cholestatic sensitive test. ALP was constantly high even in asymptomatic patients.Conclusions:In HT1 a faster dropping of AFP is a marker of good prognosis.