Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency
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Dania Takagi
Abstract
A 14-month-old female infant presented with recurrent episodes of acute gastroenteritis accompanied by severe metabolic acidosis and hypoglycemia. Physical examination showed hepatomegaly. Laboratory evaluation revealed elevated hepatic enzymes, prolonged prothrombin time, hyperuricemia, and extremely elevated lactate and alanine levels. Glucagon injection during hypoglycemia resulted in a further decrease of blood glucose. She was treated with glucose-containing intravenous fluids, with rapid improvement and normalization of her blood pH and glucose levels. Hormonal assessment during two episodes of hypoglycemia indicated growth hormone (GH) deficiency. However, as isolated GH deficiency could not explain all other concomitant features, such as severe lactic acidosis, hepatomegaly, impaired liver function, and hyperuricemia, the possibility of a combined defect was suggested. Further lymphocytic enzymatic investigation revealed fructose-1,6-diphosphatase deficiency and molecular genetic analysis demonstrated frame shift mutation in the FBP1 gene. This enzyme deficiency causes a rare metabolic disorder not previously described in combination with GH deficiency.
References
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©2013 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Precocious puberty and diagnostic tests
- Review article
- The influence of carbohydrate quality on cardiovascular disease, the metabolic syndrome, type 2 diabetes, and obesity – an overview
- Original Articles
- Triptorelin depot stimulation test for central precocious puberty
- Umbilical cord and fifth-day serum vaspin concentrations in small-, appropriate-, and large-for-gestational age neonates
- Growth patterns in pubertal HIV-infected adolescents and their correlation with cytokines, IGF-1, IGFBP-1, and IGFBP-3
- Estrogen receptor α gene analysis in girls with central precocious puberty
- Trends of body composition among adolescents according to maturation stage and body mass index
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- Interaction of bone mineral density, adipokines and hormones in obese adolescents girls submitted in an interdisciplinary therapy
- The contribution of art therapy in poorly controlled youth with type 1 diabetes mellitus
- NOX, the main regulator in oxidative stress in experimental models of phenylketonuria?
- Changes in growth pattern, leptin ghrelin and neuropeptide Y levels after adenotonsillectomy in prepubertal children
- Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report
- Correlation between bone mineral density measured by peripheral and central dual energy X-ray absorptiometry in healthy Indian children and adolescents aged 10–18 years
- Thyroid-stimulating hormone (TSH) level in nutritionally obese children and metabolic co-morbidity
- Hepatocyte growth factor as an indicator of neonatal maturity
- Pathophysiology of critical illness hyperglycemia in children
- The influence of exposure to maternal diabetes in utero on the rate of decline in β-cell function among youth with diabetes
- Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis
- Abdominal aorta intima media thickness in obese children
- Patient reports
- KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child
- Hoffmann’s syndrome and pituitary hyperplasia in an adolescent secondary to Hashimoto thyroiditis
- Late diagnosis of Cushing’s disease in a child: what lessons can be learned?1)
- Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation
- Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency
- A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia
- Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II
- Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
- Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal
- The search for ectopic ACTH production in a 9-year-old boy
- Development of antibodies against growth hormone (GH) during rhGH therapy in a girl with idiopathic GH deficiency: a case report
- Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype
- Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism
- Letters to the Editors
- How much truth is there in the association between endometriosis and atherosclerosis?
- Delayed cord clamping in plethoric term neonates of diabetic mothers: friend or foe?
- Meetings
- Meetings Calendar
