Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq.
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq. Oman Med J. 2019 Jul;34(4):297-301 Authors: Altimimi HA, Aljawadi HF, Ali EA Abstract Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year. A total of 112 infants with unexplained developmental delay were included in the study, and the required information was taken from their parents by direct interview. Tandem mass spectrometry (MS/MS) was done in collaboration with MedLabs' Referral Laboratory in Amman, Jordan. Results: Twenty (17.9%) cases had abnormal MS/MS. Disorders of amino acid metabolism represented the majority of IEM (10 cases) in which phenylketonuria and maple syrup urine disease were the most common (found in five cases each). Organic and fatty acid metabolisms were found in five and two cases, respectively. Most cases of IEM had a positive family history and consanguinity, however, family history was the only significant factor (p
Condition: Phenylketonuria Interventions: Drug: CDX 6114; Other: Matching Placebo Sponsor: Nestlé Recruiting
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin and protein synthesis, as well as reduced levels of serotonin, dopamine, and noradrenaline in the brain. When untreated, brain development is grossly disrupted and significant intellectual impairment and behavioral disturbance occur. The advent of neonatal heel prick screening has allowed for diagnosis at birth, and the institution of a phenylalanine restricted diet. Dietary...
Human Gene Therapy, Ahead of Print.
Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...
PMID: 31526703 [PubMed - as supplied by publisher]
In conclusion, this study is the first to establish non-invasive prenatal diagnosis of PKU based on ddPCR. The method showed high sensitivity and specificity from cfDNA, indicating that ddPCR is a reliable non-invasive prenatal diagnosis tool for PKU diagnosis. Graphical abstract. PMID: 31485704 [PubMed - as supplied by publisher]
ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies.
ConclusionMost participants felt the burden of PKU on their daily lives, were dissatisfied with current treatments, and were willing to accept the risks of hypersensitivity reactions to achieve recommended blood Phe levels with pegvaliase treatment.