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Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children.
Heliyon
March 2024
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, 610031, China.
Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is identified only through newborn screening for diseases.
View Article and Find Full Text PDFDihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy.
Endocr Metab Immune Disord Drug Targets
November 2023
Unidade de Neuropediatria, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central.
Article Synopsis
- Dihydropteridine reductase deficiency (DHPRD) is a rare genetic disorder affecting the regeneration of tetrahydrobiopterin, leading to symptoms that often resemble cerebral palsy, such as developmental delays and feeding difficulties.
- A 2-year-old boy diagnosed with cerebral palsy in Guinea was found to have hyperphenylalaninemia, prompting further testing that revealed DHPRD due to a specific genetic variant.
- Early treatment initiation, including a restrictive diet and medication, led to moderate improvement in the child's condition, highlighting the importance of accurate diagnosis to ensure effective management of neurological disorders that may mimic cerebral palsy.
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.
Mol Genet Genomic Med
January 2024
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Background: Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine-4-hydroxylase (PAH) and non-PAH deficiency. The latter is produced by mutations in genes involved in the tetrahydrobiopterin (BH4) biosynthesis pathway and DNAJC12 pathogenetic variants. The BH4 metabolism, including de novo biosynthesis involved genes (i.
View Article and Find Full Text PDFBiochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
Front Genet
August 2023
Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase () gene vary widely according to race and region. This study assessed the prevalence and genetic characteristics of BH4D in Fujian Province, southeastern China. A total of 3,204,067 newborns were screened between 2012 and 2022 based on the phenylalanine level and the phenylalanine/tyrosine ratio in dried blood spots.
View Article and Find Full Text PDFDevelopmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
Brain Dev
October 2023
Metabolic Genetics Service, The Sydney Children's Hospitals Network, Westmead, NSW, Australia; Discipline of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:
Background: Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic pathogenic variants in DNAJC12, co-chaperone of phenylalanine, tyrosine, and tryptophan hydroxylases, leads to hyperphenylalaninemia and biogenic amines deficiency.
Methods And Results: A male firstborn to non-consanguineous Sudanese parents had hyperphenylalaninemia 247 µmol/L [reference interval (RI) < 200 µmol/L] at newborn screening.
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