Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran

Objective: This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder. Methods: In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guanidinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed. Other data, including age, parental consanguinity, history of seizure, developmental mile-stones, and physical examination, were also recorded. Results: An inborn error of metabolism was found in 13 (12.4%) patients. Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association between positive metabolic evaluation and parental consanguinity, history of seizures, microcephaly, and delayed development. Conclusions: Our results suggest that metabolic screening should be performed in the cases of autism associated with parental consanguinity, developmental delay, and a history of seizures. The assays to be considered as a screening panel include plasma or blood amino acids, acylcarnitines, creatine and guanidinoacetate, and urinary levels of organic acids.

A Case of Antley-Bixler Syndrome with New Genetic Study Result.

Aims: Antley-Bixler syndrome (ABS) is a rare disease which is a complex of skeletal, visceral, extremity and genital anomalies and occasionally is associated with adrenal insufficiency due to P450-oxidoreductase deficiency. In this article we report a patient, a suspicious case of ABS with different phenotypic and genotypic characteristics. Presentation of Case: The patient is a male infant with facial dysmorphism, syndactyly, multiple joint contractures, and ambiguous genitalia. He had hyponatremia, hyperkalemia and elevated 17.OH.progestrone level of serum. In genetic analysis, no mutation was found in POR gene. Discussion: This patient has clinical and paraclinilical manifestations of ABS. Although different mutations have been reported as the cause of this syndrome, all reported patients who suffered from adrenal insufficiencies, had mutations in POR gene. Conclusion: According to our search in literature, this is the first case of ABS associated with adrenal insufficiency who does not have any mutation in POR gene. More genetic studies are needed to determine new mutations in such patients.

[Cow's milk allergy in infantile colic]

Introduction and Objective: cow's milk allergy has been considered as a cause of infantile colic. Many physicians change the diet of these infants to a cow's milk free diet. In this study, we evaluated the role of cow's milk allergy in infantile colic in breast fed infants

Materials and Methods: this single blind clinical trial was done in infants between three weeks and three months old with infantile colic who were referred to a subspecialty clinic in Shiraz-Iran from September 2003 to February 2004. Only exclusively breast fed infants were selected. For other infants who were formula fed, only a questionnaire was filled out, stool exam was performed and they were then excluded from the study. Skin prick tests with cow's milk and stool exams [for occult blood] were performed for these infants, and the correct technique of breast feeding was taught to their mothers. Then, the infants were divided to case and control groups randomly. In the case group, the mothers were advised not to consume cow's milk and other dairy products for two weeks. But in the control group, no change in the diet of the mothers was recommended. Furthermore, 50 healthy infants without symptoms of colic were included in the study as the second control group. Their mothers were asked about the type of feeding and stool exams were done for them. Finally, the data were analyzed using chi-square test

Results: from all 270 examined infants, colic was confirmed in 169 cases. Among them, 153 infants were breast fed exclusively. 114 cases in this group allowed the skin prick test to be done. The test was positive in only 3 infants [2.6%]. From these 114 infants, only 77 infants completed the study. 35 infants were in the case group and 42 infants were in the control group. Infants with colic whose mothers did not take dairy products, did not improve significantly in comparison with the control group. Prevalence of formula feeding was significantly higher in colicky infants in comparison with non-colicky infants [24% and 2% respectively]. Prevalence of occult blood in the stools of colicky infants was significantly higher in colicky infants than non-colicky infants [24% and zero respectively]

Conclusion: due to the unresponsiveness of infants to the elimination of cow's milk, it can be concluded that cow's milk allergy is not a common cause of infantile colic. Therefore, it is not advised to eliminate the dairy products from the diet of nursing mothers. Also, it is not necessary to perform skin prick tests as a routine test in these infants. The high prevalence of occult blood in the stools of infants suffering from colic is a new finding. Evaluation of its cause will be helpful in determining the etiology of infantile colic