Dietary practices in glutaric aciduria type 1 over 16 years

• Published in: Journal of human nutrition and dietetics 2012-12, Vol.25 (6), p.514-519
• Main Authors: Gokmen-Ozel, H., MacDonald, A., Daly, A., Ashmore, C., Preece, M. A., Hendriksz, C., Vijay, S., Chakrapani, A.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age; Age Factors; Amino Acid Metabolism, Inborn Errors - complications; Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - diet therapy; Amino Acid Metabolism, Inborn Errors - mortality; Amino Acid Metabolism, Inborn Errors - therapy; Biological and medical sciences; Biomarkers - blood; Brain Diseases - etiology; Brain Diseases - prevention & control; Brain Diseases, Metabolic - complications; Brain Diseases, Metabolic - diagnosis; Brain Diseases, Metabolic - diet therapy; Brain Diseases, Metabolic - mortality; Brain Diseases, Metabolic - therapy; Carnitine - therapeutic use; Child; Child, Preschool; Diet; Diet, Protein-Restricted; Dietary Proteins - adverse effects; Dietary Proteins - therapeutic use; Dietetics - methods; Disabled Persons; Early Diagnosis; Enteral Nutrition; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; Glucose - therapeutic use; glutaric aciduria type 1; Glutaryl-CoA Dehydrogenase - deficiency; Humans; lysine; Lysine - administration & dosage; Lysine - adverse effects; Male; Medical screening; Nutrition research; Practice Patterns, Physicians; protein; protein substitute; Proteins; Severity of Illness Index; tryptophan; Tryptophan - administration & dosage; Tryptophan - adverse effects; United Kingdom - epidemiology; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Young Adult
• ISSN: 0952-3871; 1365-277X
• DOI: 10.1111/j.1365-277X.2012.01269.x

How to cite this article 
Gokmen‐Ozel H., MacDonald A., Daly A., Ashmore C., Preece M.A., Hendriksz C., Vijay S. & Chakrapani A. (2012) Dietary practices in glutaric aciduria type 1 over 16 years. J Hum Nutr Diet. Background:  In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to prevent encephalopathic crisis (EC). In the present study, dietary practices were examined in a single UK centre without access to newborn screening. Methods:  Twenty GA1 patients (11 males, median age: 10.2 years, range 2.2–24.1 years) were evaluated. Nine presented without EC (median diagnosis age: 1.1 years, range 4 days to 8 years) and 11 with EC (median diagnosis age 10 months, range 6 months to 1.7 years). Dietary treatment, neurological outcome, anthropometry and biochemical/haematological markers were assessed. Results:  Diet treatment varied according to age of diagnosis and symptom severity. Four of six pre‐encephalopathic children diagnosed before 2 years of age were treated with carnitine, protein restriction (medium l.2 g kg day−1) and lysine‐free/low tryptophan protein substitute (PS) (medium dose: 1.6 g kg day−1). EM consisted of natural protein cessation and glucose polymer with PS delivered via an enteral feeding tube. Older children (>3 years) without EC were given carnitine and protein restriction, and seven of nine EC patients had PS via an enteral feeding tube. Clinical deterioration occurred in two patients without EC; one taking PS and protein restriction (with a second untreatable pathology) and one after protein restriction only. In patients presenting with EC, four died and one had some improvement in movement, with the rest remaining stable but with severe disability. Patients taking PS had better nutritional markers [serum vitamin B12 (P