Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1

Title

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1

Creator

Kyllerman M; Skjeldal O; Christensen E; Hagberg G; Holme E; Lonnquist T; Skov L; Rotwelt T; von Dobeln U

Publisher

European Journal Of Paediatric Neurology

Date

2004

Subject

Child; Female; Humans; infant; Male; Survival Rate; Adult; Prognosis; Follow-Up Studies; Time Factors; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Nervous System Diseases/etiology; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Amino Acid Metabolism; Finland/epidemiology; Inborn Errors/complications/diagnosis/mortality; Oxidoreductases Acting on CH-CH Group Donors/deficiency; Scandinavia/epidemiology

Description

All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland, Norway and Sweden were identified and studied retrospectively until 2001. Mass screening was not performed. Three were sibling cases. Prenatal enzymatic diagnosis performed in 11 pregnancies led to termination in one. The median follow-up time was 14 years. Six patients had died. At 10 years of age the cumulative survival rate was 89% and at 35 years 44%. The dominating neurological sign was dystonia in 20 and dyskinesia in 4. Three had only slight spastic signs and information was missing in one. The head circumference at birth was significantly larger than normal and increased significantly until 6 months of age. The onset was acute encephalopathic in 24 patients and insidious in 3. From the time of diagnosis, all patients but one were prescribed protein restriction and/or a diet low in lysine and tryptophan. Riboflavine and/or carnitine supplementation were given to 25. Neurological deficits did not improve on the offered treatment. Deterioration may have been averted by intense acute metabolic treatment in a few patients. Dystonia correlated significantly to absence of speech but not to cognitive function. Severe disability, including motor, cognitive and speech functions, correlated significantly with acute onset, dystonia and mortality, and weakly with a deteriorating course, but not with age at onset, diagnosis, or follow-up, nor to head size. Results from future population studies derived from mass screening will have to relate to clinical diagnostic series of the kind presented here.
2004

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Citation

Kyllerman M; Skjeldal O; Christensen E; Hagberg G; Holme E; Lonnquist T; Skov L; Rotwelt T; von Dobeln U, “Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1,” Pediatric Palliative Care Library, accessed March 29, 2024, https://pedpalascnetlibrary.omeka.net/items/show/13057.