Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.

ABSTRACT:

Background

Tetrahydrobiopterin (BH₄ ) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of this study are to analyze the genotype-phenotype and the pedigree of the first case of BH₄ deficiency in the Uygur of China.

Methods

(a) This patient received tandem mass spectrometry, urinary neopterin and biopterin analysis, and determination of dihydropteridine reductase (DHPR) activity in dried blood spots. (b) Blood DNA samples of this patient and her three family members were collected for gene sequencing and mutation analysis.

Results

(a) The basic urinary neopterin

SUBMITTER: Li L 

PROVIDER: S-EPMC6818561 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature