title: Dietary practices in glutaric aciduria type 1 over 16 years.
abstract: 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 B(12) (P < 0.001), albumin (P < 0.001), haemoglobin (P < 0.001) and essential plasma amino acids].
  
  
  CONCLUSIONS
  Early diagnosis of GA1 before EC is essential because PS and protein restriction with meticulous EM prevents EC. PS also improves nutritional status irrespective of clinical condition.
authors: Birmingham Children's Hospital, Birmingham, UK.
authors: H
authors: H
authors: Gokmen-Ozel
authors: A
authors: A
authors: MacDonald
authors: A
authors: A
authors: Daly
authors: C
authors: C
authors: Ashmore
authors: M A
authors: MA
authors: Preece
authors: C
authors: C
authors: Hendriksz
authors: S
authors: S
authors: Vijay
authors: A
authors: A
authors: Chakrapani
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy* / Q000401:mortality / Q000628:therapy; D015415:Biomarkers / Q000097:blood; D001927:Brain Diseases / Q000209:etiology / Q000517:prevention & control; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy* / Q000401:mortality / Q000628:therapy; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D004044:Dietary Proteins / Q000009:adverse effects / Q000627:therapeutic use; D004046:Dietetics / Q000379:methods; D006233:Persons with Disabilities; D042241:Early Diagnosis; D004750:Enteral Nutrition; D005260:Female; D005947:Glucose / Q000627:therapeutic use; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency; D006801:Humans; D008239:Lysine / Q000008:administration & dosage* / Q000009:adverse effects; D008297:Male; D010818:Practice Patterns, Physicians'; D012720:Severity of Illness Index; D014364:Tryptophan / Q000008:administration & dosage* / Q000009:adverse effects; D006113:United Kingdom / Q000453:epidemiology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D004044:Dietary Proteins; D014364:Tryptophan; D050770:Glutaryl-CoA Dehydrogenase; D005947:Glucose; D008239:Lysine; D002331:Carnitine