Background: Conversion of glucose-6-phosphate to glucose is the final step in both glycogenolysis and gluconeogenesis. In glycogen storage disease type Ia (GSD type Ia), decreased activity of the enzyme glucose6-phosphatase leads to an increased concentration of glucose-6- phosphate within the hepatocytes and shunting into alternative pathway with the following consequences: hyperlactatemia, hyperuricemia and hypertriglyceridemia. Patients develop hypoglycemia within 3 to 4 hours after a meal. Case Report: We reported four patients with GSD type Ia with different clinical manifestations such as hypoglycemia, hepatomegaly, lactic acidosis, hyperchylomicronemia, and hyperuricemia and also described their prognosis. Conclusion: Previously, many children with GSD Ia died in infancy or early childhood. Recurrent severe hypoglycemia can cause brain damage, but the prognosis has improved dramatically with early diagnosis and long term maintenance of optimal metabolic control.

Background: Turner syndrome (TS) is the most common genetic disorder affecting only females. The criteria for diagnosis include the complete or partial absence of the second sex (x) chromosome (with or without cell line mosaicism) plus short stature and primary ovarian failure with or without the presence of other phenotypic TS features. The genotype in TS, as tested in peripheral blood, is most commonly 45xo. β-thalassemia major or transfusion-dependent thalassemia refers to severe β-thalassemia that requires early transfusion therapy. The association between Turner syndrome and thalassemia major is rare, which may result from transcription factor gene mutation. Case Report: We report a girl with thalassemia major who was treated by recurring monthly transfusions since the age of six months. Short stature, triangular face, low set ear, hypertelorism, webbed neck, lordosis and genu valgum were observed in the examination. The patient was diagnosed with Turner syndrome, and her karyotype also was defined as 45xo. Conclusion: In the case of Turner syndrome and β-thalassemia major association, a mutation in the transcription factor gene is proposed, which can be confirmed by genetic testing.

Background: Methylmalonic acidemia (MMA) is a congenital disorder due to the defects in the propionate pathway. It results from a deficiency in methylmalonyl coenzyme A mutase or one of the steps of the synthesis of the cobalamin (B12) cofactors for the enzyme. There is deficiency of methylmalonylcoAmutase (MCM) in the classic MMA. It presents with severe metabolic acidosis in the first month of life, progressive failure to thrive, feeding problems, recurrent vomiting, dehydration, hepatomegaly, lethargy, seizures, and developmental delay. Quantitative analysis of urinary organic acid patterns by GC-MS is used in MMA diagnosis. Treatment with large doses of hydroxocobalamin is helpful in some cases of MMA.                                                                                        Case presentation:We Reported 6 patients with MMA with a variety of clinical manifestations and outcomes. Conclusion: The overall prognosis of classic MMA remains doubtful, whereas vitamin B12 responsive MMA has a reasonable outcome.

Background:Diabetes insipidus (DI) is a syndrome that begins with polyuria and is often associated with polydipsia. Three significant differential diagnosis are important to consider in evaluating the causes of polyuria, including primary polydipsia, diabetes mellitus, and diabetes insipidus. In diabetes incipidus, ADH hormone is not synthesized and secreted in Central DI or the hormone has lost its function in the renal tubules in nephrogenic DI type. Case presentation:The patient was a 5.5 year-old-boy with polyurea and polydipsia from the beginning of the infancy. The patient had the serum osmolality of 277 mOsm/kg with the 24 hours urine volume of 4500 cc and urine osmolality of 200 mOsm/kg. The patient underwent water deprivation test for 12 hours. After administration of 20 μg of desmopressin spray, the urine osmolality increased to 720 mOsm/kg. Central diabetes insipidus was diagnosed. There was posterior hypophyseal agenesis in the brain MRI.  Conclusion: The above patient seemed to be one of the rare cases of autosomal recessive central DI that became symptomatic with polyuria and polydipsia from the early days of life. This rare and interesting case had isolated posterior pituitary agenesis. Desmopressin treatment resolved the patient's complaints. The patient was asymptomatic, and had normal growth in one year follow up.

Background: Hereditary hyperphosphatasia is a congenital and rare disease with high bone turn over. The disease is defined with extremely elevated alkaline phosphatase levels. Neonates with hyperphosphatasia are normal at birth but develop progressive long bone deformities, fracture, vertebral collapse, skull enlargement due to massively thickened calvarium, and deafness. Case Presentation: Here, we described a male patient with progressive deformity in limbs and pain during walking that onset of symptoms was from age of two. The patient admitted to the Shahid Sadoughi Hospital, Yazd, was born from a non-consanguineous marriage. He was treated with pamidronate until halt of the disease progression and followed up for 18 months. Conclusion: Bisphosphonate is the treatment of choice for hyperphosphatasia because it can normalize bone turnover, improve growth rates, and skeletal quality.