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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. [ABSTRACT FROM AUTHOR]

To report the volumetric measures of the paralyzed vocal fold in patients undergoing injection laryngoplasty. All the medical records of patients with unilateral vocal fold paralysis who had high resolution computerized tomography scan of the neck and chest prior to injection laryngoplasty between October 2015 and May 2018 were included. Volumetric evaluation of the vocal folds was performed by measuring the vocal fold height using coronal images and the vocal fold length and width using axial images. A total of 21 patients divided into 13 males and 8 females were identified. The mean age was 56.66 ± 20.94 years. The mean volume of the paralyzed vocal fold was significantly smaller than that of the non-paralyzed vocal fold (p <.05). Similarly, the mean length and height of the paralyzed vocal folds were smaller than those of the non-paralyzed vocal folds (p <.05). Volumetric measurements of the paralyzed vocal fold in comparison to the normal vocal fold in a group of 21 patients with unilateral vocal fold paralysis shows the presence of significant difference between the normal and affected site, and the presence of large inter-subject variation. Information on the volume difference between the two vocal folds may be used to better estimate the amount that needs to be injected in medialization procedures. [ABSTRACT FROM AUTHOR]