Biomedical and Pharmacology Journal (BPJ) is an international, open access, peer reviewed, quarterly research journal.

Background: Phenylketonuria (PKU) is the most frequent inborn error in amino acid metabolism caused by a deficiency of the phenylalanine hydroxylase enzyme (PAH). If PKU is left untreated, high concentrations of phenylalanine (Phe) accumulate in the blood, leading to severe brain dysfunction, neurodevelopmental, behavioral and psychological problems. Data concerning the epidemiology of PKU in Jordan are limited. The main objectives of our study were to determine the prevalence of PKU in Jordan, analyze the PKU phenotypes, and identify major challenges in providing dietary management to PKU patients. Methods: Data were collected utilizing the medical records of PKU patients attending the PKU clinic at the Ministry of Health in Amman, Jordan, between 2008 and 2021. Results: The total number of patients diagnosed with PKU was 294. The prevalence of PKU was estimated to be 1/5263. Most patients were Jordanians (90.8%), and 9.2% were non-Jordanians. More than half of the patients (56%) were diagnosed through the national newborn screening (NBS) program. Regarding the phenotypes of PKU, 46.6% had moderate PKU, whereas 42.9% had the classic type of PKU and only 8 (2.7%) had cofactor Tetrahydrobiopterin (BH4) deficiency (atypical PKU). According to the age of diagnosis, 66% of patients were diagnosed more than 30 days post-birth. Consanguinity was found in 87.4% of patients, and the majority of patients, 218 (74.2%), had first-degree consanguinity. The most common complication was mental retardation (31%). Most patients were committed to dietary management (83%) and developed fewer complications. Conclusion: In our study, we demonstrated the importance of the NBS program in the early identification and diagnosis of new PKU cases which allows the initiation of treatment and dietary management to prevent severe complications of PKU in Jordan.

Nitisinone (NTBC) was recently approved to treat alkaptonuria (AKU), but there is no information on its impact on oxidative stress and inflammation, which are observed in AKU. Therefore, serum samples collected during the clinical studies SONIA1 (40 AKU patients) and SONIA2 (138 AKU patients) were tested for Serum Amyloid A (SAA), CRP and IL-8 by ELISA; Advanced Oxidation Protein Products (AOPP) by spectrophotometry; and protein carbonyls by Western blot. Our results show that NTBC had no significant effects on the tested markers except for a slight but statistically significant effect for NTBC, but not for the combination of time and NTBC, on SAA levels in SONIA2 patients. Notably, the majority of SONIA2 patients presented with SAA > 10 mg/L, and 30 patients in the control group (43.5%) and 40 patients (58.0%) in the NTBC-treated group showed persistently elevated SAA > 10 mg/L at each visit during SONIA2. Higher serum SAA correlated with lower quality of life and higher morbidity. Despite no quantitative differences in AOPP, the preliminary analysis of protein carbonyls highlighted patterns that deserve further investigation. Overall, our results suggest that NTBC cannot control the sub-clinical inflammation due to increased SAA observed in AKU, which is also a risk factor for developing secondary amyloidosis.

A national pharmacovigilance database was created recently at the Rational Drug Use and Pharmacovigilance Department at Jordan Food and Drug Administration (JFDA). This study was based on the analysis of the adverse drug reactions (ADRs) reports submitted to the national pharmacovigilance (PV) database in Jordan from 2010 to 2014.The aims of this study were to identify the most frequently body system classes and the most common ADRs for the four major classes of dugs implicated in the PV database and include: antineoplastics, immunomodulators, antibiotics and analgesics. The most affected systems by ADRs in our study were the skin and the gastrointestinal (GI) systems. The skin ADRs associated with the use of antineoplastics were skin rash, hand and foot syndrome and acral erythema, and the most frequent GI ADRs were vomiting and diarrhea. The most affected system by the use of the immunomodulators was the blood system and the most common ADRs were anemia, thrombocytopenia and neutropenia. The most commonly ADRs following analgesics use were GI bleeding and duodenal ulcer and the skin reactions were rash, itching and flushing. Analysis of the national PV database provides close monitoring and more information about the safety of medicine in Jordan. All Health care provider should be aware of the importance of reporting of adverse reactions and should be encouraged to report suspected ADRs and be trained in detecting, diagnosing and treating patients with adverse effects of drugs.