scholarly journals Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening

2021 ◽  
Author(s):  
Nikolas Boy ◽  
Alexander Mohr ◽  
Sven F. Garbade ◽  
Peter Freisinger ◽  
Jana Heringer‐Seifert ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Subdural Hematoma ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

scholarly journals Clinical, Biochemical, and Radiologic Characteristics of Filipino Patients with Glutaric Aciduria Type 1

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Ebner Bon G. Maceda ◽  
Mary Ann R. Abacan ◽  
Mary Anne D. Chiong
Keyword(s):  
Newborn Screening ◽  
General Hospital ◽  
Inborn Error ◽  
The Philippines ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Expanded Newborn Screening ◽  
Radiologic Characteristics

Introduction. Glutaric Aciduria Type 1 (GA1) is an inborn error of metabolism included in the expanded newborn screening of the Philippines. This inborn error of metabolism is caused by glutaryl-CoA dehydrogenase deficiency which is important in the catabolism of lysine, hydroxylysine and tryptophan.Objective. This paper aimed to present the baseline data of patients with GA1 in the Philippines by describing the clinical, biochemical, and radiologic characteristics of Filipino patients with biochemically-confirmed GA1 seen at the Philippine General Hospital from January 2010 to December 2017. The cases of this condition have been increasing and are expected to increase even more with the full coverage of the expanded newborn screening.Methods. This study was a review of the medical records of the GA1 patients managed by the Division of Clinical Genetics, Department of Pediatrics of the Philippine General Hospital (PGH). Biochemical parameters, developmental  assessment, neurologic assessment, and radiologic features of the patients were reviewed and analyzed.Results. There were a total of 7 patients with GA1 at the PGH from January 2010 to December 2017. Of the 7 patients, 4 were diagnosed by expanded newborn screening (ENBS) and 3 patients had disease onset prior to diagnosis. Clinical features noted in screened patients include global developmental delay (75%), seizures (50%), dystonia (50%), truncal hypotonia (25%) and macrocephaly (25%). In unscreened patients, macrocephaly was present in 66.67 %, while the other clinical features were present in all of them. Four of the 7 patients had infection and one had vaccination, which may have led to a metabolic crisis and subsequent onset of symptoms. The plasma levels of glutarylcarnitine (C5DC) range from 2.81 to 4.58 umol/L. Grossly elevated urinary excretion of glutarylcarnitine were noted in all patients. Urinary glutaconic acid and 3-hydroxyglutaric acid were also detected in all patients. Both striatal and extra-striatal abnormalities were present in screened and unscreened patients on neuroimaging. The most common being the widening of the sylvian fissure, cerebral atrophy, and white matter abnormalities.Conclusion. Although newborn screening of GA1 and initiation of early management of this condition have been seen important, it is still prudent to continue the appropriate management and to provide timely aggressive emergency treatment in order to improve outcome of patients with GA1. With the recent Philippine Health Insurance (PhilHealth) coverage of the expanded newborn screening, it is expected that physicians will encounter more of the metabolic disorders, including GA1. Hence, it is important that physicians be more aware of the presenting signs and symptoms of this disorder, as well as its management, which can further improve the neurologic and developmental outcomes of these patients.

scholarly journals The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
E. M. Charlotte Märtner ◽  
Eva Thimm ◽  
Philipp Guder ◽  
Katharina A. Schiergens ◽  
Frank Rutsch ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Cognitive Functions ◽  
Glutaric Aciduria Type ◽  
Cognitive Outcome ◽  
Systematic Evaluation ◽  
Current Therapy ◽  
Glutaric Aciduria Type 1 ◽  
Multi Centre Study ◽  
Glutaric Aciduria

AbstractThe aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi-centre study includes 107 individuals with confirmed GA1 identified by newborn screening between 1999 and 2020 in Germany. Clinical status, development, and IQ were assessed using standardized tests. Impact of interventional and non-interventional parameters on cognitive outcome was evaluated. The majority of tested individuals (n = 72) showed stable IQ values with age (n = 56 with IQ test; median test age 11 years) but a significantly lower performance (median [IQR] IQ 87 [78–98]) than in general population, particularly in individuals with a biochemical high excreter phenotype (84 [75–96]) compared to the low excreter group (98 [92–105]; p = 0.0164). For all patients, IQ results were homogenous on subscale levels. Sex, clinical motor phenotype and quality of metabolic treatment had no impact on cognitive functions. Long-term neurologic outcome in GA1 involves both motor and cognitive functions. The biochemical high excreter phenotype is the major risk factor for cognitive impairment while cognitive functions do not appear to be impacted by current therapy and striatal damage. These findings implicate the necessity of new treatment concepts.

scholarly journals Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

2020 ◽  
Vol 23 (1) ◽  
pp. 13-21 ◽  
Author(s):  
Nikolas Boy ◽  
Katharina Mengler ◽  
Jana Heringer-Seifert ◽  
Georg F. Hoffmann ◽  
Sven F. Garbade ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Motor Development ◽  
Neurological Outcome ◽  
Meta Analysis ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Quality Of Therapy

Abstract Purpose Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended therapy are thought to improve the neurological outcome. Methods Systematic literature search for articles published from 2000 to 2019 was performed using the PRISMA protocol. Studies reporting on more than one individual identified by NBS were included. We investigated effects of interventional and noninterventional variables on neurological outcome. Results Fifteen publications reporting on 647 GA1 patients were included. In the NBS group (n = 261 patients), 195 patients remained asymptomatic (74.7%), while 66 patients (25.3%) developed a MD. Compared with the NBS group, a much higher proportion of patients (349/386; 90.4%; p < 0.0001) diagnosed after the manifestation of neurologic symptoms had a MD and an abnormal motor development (285/349; 81.7%; p < 0.0001). For NBS patients, deviations from the recommended diet increased the risk of insidious onset MD, while delayed start of emergency treatment increased the risk of acute onset MD. Conclusions This meta-analysis demonstrates that NBS programs for GA1 have an overall positive effect on the neurological outcome of affected individuals but their success critically depends on the quality of therapy.

scholarly journals AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes

2017 ◽  
Vol 5 (S2) ◽  
pp. AB054-AB054
Author(s):  
Shih-Hong Khoo ◽  
Fang-Chih Tsai ◽  
An-Guor Wang ◽  
Yung-Hsiu Lu ◽  
Tzu-Hung Chu ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

FV 754. Newborn Screening, a Disease-Modifying Intervention for Glutaric Aciduria Type 1

2018 ◽  
Author(s):  
Nikolas Boy ◽  
Katharina Mengler ◽  
Eva Thimm ◽  
Katharina Schiergens ◽  
Thorsten Marquardt ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Disease Modifying
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