Type I glutaric aciduria, part 1: natural history of 77 patients

Title

Type I glutaric aciduria, part 1: natural history of 77 patients

Creator

Strauss KA; Puffenberger EG; Robinson DL; Morton DH

Publisher

American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics

Date

2003

Subject

Humans; Magnetic Resonance Imaging; Necrosis; Q3 Literature Search; Brain Diseases; Chromosomes; Human; Mutation/genetics; Dystonia/complications; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Inborn/complications/diet therapy/drug therapy/genetics; Lysine/metabolism; Metabolic; Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism; Pair 19/genetics; Putamen/blood supply/pathology; Tryptophan/metabolism

Description

Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt-onset behavioral arrest. Tissue degeneration is stroke-like in pace, radiologic appearance, and irreversibility. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non-Amish communities.
2003

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

Pages

38-52

Issue

1

Volume

121C

Citation

Strauss KA; Puffenberger EG; Robinson DL; Morton DH, “Type I glutaric aciduria, part 1: natural history of 77 patients,” Pediatric Palliative Care Library, accessed October 16, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13101.

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