The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Abstract Background Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed. Method This study included 41 patients diagnosed with acylcarnitine profile, urinary organic acids, mutation analyses in the symptomatic period. We presented with clinical, neuroradiological, and molecular data of our 41 patients. Results The mean age at diagnosis was 14.8 ± 13.9 (15 days to 72 months) and, high blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41 patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were late-diagnosed, had a poor neurological outcome. Treatment strategies made a little improvement in dystonia and the frequency of encephalopathic attacks. Conclusion All GA-1 patients in our study were severely affected since they were late-diagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS.

Download Full-text

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Nutrients ◽

10.3390/nu12103162 ◽

2020 ◽

Vol 12 (10) ◽

pp. 3162

Author(s):

Laurie Bernstein ◽

Curtis R. Coughlin ◽

Morgan Drumm ◽

Steven Yannicelli ◽

Fran Rohr

Keyword(s):

Glutaric Aciduria Type ◽

Organic Aciduria ◽

Intact Protein ◽

Glutaric Aciduria Type 1 ◽

Glutaric Aciduria ◽

Nutrition Management ◽

Free Tryptophan ◽

Medical Foods ◽

Survey Responses

Glutaric aciduria type 1 (GA-1) is a cerebral organic aciduria characterized by striatal injury and progressive movement disorder. Nutrition management shifted from a general restriction of intact protein to targeted restriction of lysine and tryptophan. Recent guidelines advocate for a low-lysine diet using lysine-free, tryptophan-reduced medical foods. GA-1 guideline recommendations for dietary management of patients over the age of six are unclear, ranging from avoiding excessive intake of intact protein to counting milligrams of lysine intake. A 22–question survey on the nutrition management of GA-1 was developed with the goal of understanding approaches to diet management for patients identified by newborn screening under age six years compared to management after diet liberalization, as well as to gain insight into how clinicians define diet liberalization. Seventy-six responses (25% of possible responses) to the survey were received. Nutrition management with GA-1 is divergent among surveyed clinicians. There was congruency among survey responses to the guidelines, but there is still uncertainty about how to counsel patients on diet optimization and when diet liberalization should occur. Ongoing clinical research and better understanding of the natural history of this disease will help establish stronger recommendations from which clinicians can best counsel families.

Download Full-text

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0474 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Tanyel Zubarioglu ◽

Saffa Ahmadzada ◽

Cengiz Yalcinkaya ◽

Ertugrul Kiykim ◽

Cigdem Aktuglu-Zeybek

Keyword(s):

Glutaric Aciduria Type ◽

Periventricular White Matter ◽

Inborn Errors ◽

Glutaric Aciduria Type 1 ◽

Glutaric Aciduria ◽

Dehydrogenase Gene ◽

Time In Literature ◽

Metabolic Outcome ◽

The Impact

Abstract Objectives The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1). Case presentation A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1. Conclusions With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.

Download Full-text