Glycogen storage disease type I: clinical and laboratory profile
Objectives: 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 convenienc...
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| Format: | Article |
| Language: | Portuguese |
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Brazilian Society of Pediatrics
2014-11-01
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| Series: | Jornal de Pediatria (Versão em Português) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2255553614001220 |
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| author | Berenice L. Santos Carolina F.M. de Souza Lavinia Schuler‐Faccini Lilia Refosco Matias Epifanio Tatiele Nalin Sandra M.G. Vieira Ida V.D. Schwartz |
| author_facet | Berenice L. Santos Carolina F.M. de Souza Lavinia Schuler‐Faccini Lilia Refosco Matias Epifanio Tatiele Nalin Sandra M.G. Vieira Ida V.D. Schwartz |
| author_sort | Berenice L. Santos |
| collection | DOAJ |
| description | Objectives: 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. |
| first_indexed | 2024-04-11T07:01:33Z |
| format | Article |
| id | doaj.art-b45161b20f8e42539285f084202a9291 |
| institution | Directory Open Access Journal |
| issn | 2255-5536 |
| language | Portuguese |
| last_indexed | 2024-04-11T07:01:33Z |
| publishDate | 2014-11-01 |
| publisher | Brazilian Society of Pediatrics |
| record_format | Article |
| series | Jornal de Pediatria (Versão em Português) |
| spelling | doaj.art-b45161b20f8e42539285f084202a92912022-12-22T04:38:39ZporBrazilian Society of PediatricsJornal de Pediatria (Versão em Português)2255-55362014-11-0190657257910.1016/j.jpedp.2014.08.002Glycogen storage disease type I: clinical and laboratory profileBerenice L. Santos0Carolina F.M. de Souza1Lavinia Schuler‐Faccini2Lilia Refosco3Matias Epifanio4Tatiele Nalin5Sandra M.G. Vieira6Ida V.D. Schwartz7Programa de Pós‐Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Medicina Genética, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilPrograma de Pós‐Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Medicina Genética, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilPontifícia Universidade Católica do Rio Grande do Sul (PUC‐RS), Porto Alegre, RS, BrasilPrograma de Pós‐Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Medicina Pediátrica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilServiço de Medicina Genética, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilObjectives: 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.http://www.sciencedirect.com/science/article/pii/S2255553614001220Inborn errors of metabolismGlycogen storage disease type IClinical aspectsDiagnosesNutritional status |
| spellingShingle | Berenice L. Santos Carolina F.M. de Souza Lavinia Schuler‐Faccini Lilia Refosco Matias Epifanio Tatiele Nalin Sandra M.G. Vieira Ida V.D. Schwartz Glycogen storage disease type I: clinical and laboratory profile Jornal de Pediatria (Versão em Português) Inborn errors of metabolism Glycogen storage disease type I Clinical aspects Diagnoses Nutritional status |
| title | Glycogen storage disease type I: clinical and laboratory profile |
| title_full | Glycogen storage disease type I: clinical and laboratory profile |
| title_fullStr | Glycogen storage disease type I: clinical and laboratory profile |
| title_full_unstemmed | Glycogen storage disease type I: clinical and laboratory profile |
| title_short | Glycogen storage disease type I: clinical and laboratory profile |
| title_sort | glycogen storage disease type i clinical and laboratory profile |
| topic | Inborn errors of metabolism Glycogen storage disease type I Clinical aspects Diagnoses Nutritional status |
| url | http://www.sciencedirect.com/science/article/pii/S2255553614001220 |
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