Αποτελέσματα Αναζήτησης
Since striatal injury occurs acutely or insidiously until age 6 years, treatment recommendations for maintenance and emergency treatment are strict for patients at ages 0-6 years and relaxed for patients older than 6 years of life.
14 Ιουν 2022 · We report the outcomes of 34 Irish patients with GA1, including new symptom onset in five patients over six years on established treatment, supporting the recommendation for diet, carnitine supplementation as well as emergency treatment ‘for life’.
1 Νοε 2020 · Cohort I 60 individuals (DOB 2006–2019) with GA1 were asymptomatic when identified between 0 and 14 days of age by one of two NBS methods (quantification of glutarylcarnitine [C5DC] from dried filter blood spots or detection of GCDH c.1262C > T from umbilical cord blood).
14 Ιουν 2022 · We present biochemical and clinical characteristics and long-term outcome data of 34 Irish patients with GA1 aged 1-40 years. Sixteen patients were diagnosed clinically, and 17 patients by HRS, prior to introduction of NBS for GA1 in the Republic of Ireland in 2018.
GA1 treated at a single National Centre over 37 years, diagnosed clinically and by high-risk screen (HRS) due to positive family history. We report characteristics of patients at diagnosis and at school-age (5–7 years), this age being the traditional ceiling at which acute complica-tions were thought to occur in GA1. Subsequent to the
Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase. This mitochondrial enzyme is encoded by the GCDH gene localized on gene map locus 19p13.2 and is involved in the catabolism of L-lysine, L-hydroxylysine and L-tryptophan.
14 Ιουν 2022 · We present biochemical and clinical characteristics and long‐term outcome data of 34 Irish patients with GA1 aged 1–40 years.
