title: Glycogen storage disease type I: clinical and laboratory profile.
abstract: OBJECTIVE
  To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.
  
  
  METHODS
  This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed.
  
  
  RESULTS
  Twenty-one patients were included (median age 10 years, range 1-25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r=0.561; p=0.008).
  
  
  CONCLUSIONS
  Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.
authors.affiliation: Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Berenice L
authors.initials: BL
authors.lastname: Santos
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Carolina F M de
authors.initials: CF
authors.lastname: Souza
authors.affiliation: Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schuler-Faccini
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Lilia
authors.initials: L
authors.lastname: Refosco
authors.affiliation: Pontifícia Universidade Católica do Rio Grande do Sul (PUC-RS), Porto Alegre, RS, Brazil; Hospital São Lucas, Porto Alegre, RS, Brazil.
authors.forename: Matias
authors.initials: M
authors.lastname: Epifanio
authors.affiliation: Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Tatiele
authors.initials: T
authors.lastname: Nalin
authors.affiliation: Medical Pediatric Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Post-Graduate Program in Gastroenterology Science and Hepatology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Sandra M G
authors.initials: SM
authors.lastname: Vieira
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: ischwartz@hcpa.ufrgs.br.
authors.forename: Ida V D
authors.initials: IV
authors.lastname: Schwartz
mesh_terms: D000293:Adolescent; D000886:Anthropometry; D001786:Blood Glucose / Q000032:analysis; D015992:Body Mass Index; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D057210:Delayed Diagnosis / Q000009:adverse effects*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D006130:Growth Disorders / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D019344:Lactic Acid / Q000097:blood; D008297:Male; D013213:Starch / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D001786:Blood Glucose; D019344:Lactic Acid; D013213:Starch
keywords: Aspectos clínicos; Clinical aspects; Diagnoses; Diagnósticos; Doença de depósito de glicogênio tipo I; Erros inatos do metabolismo; Estado nutricional; Glycogen storage disease type I; Inborn errors of metabolism; Nutritional status