A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. CASE PRESENTATION: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy. CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

BACKGROUND: Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss and nocturnal feeding is a risk factor for the development of gastroesophageal reflux that may cause chronic otitis media and hearing loss consequently. We aimed to determine the prevalence and characteristics of hearing loss in hepatic glycogen storage diseases. METHODS: A total of 24 patients with hepatic glycogen storage disease (15 glycogen storage disease type I and 9 non type I) and 24 age/sex matched healthy controls were enrolled in the study. Pure tone audiometer, immitansmetry, acoustic reflex measurement, otoacoustic emission test (OAE) and auditory brainstem response (ABR) tests were applied to all participants. RESULTS: Hearing loss was determined in 17/24 patients (12 glycogen storage disease type I and 5 non type I) with pure tone audiometer. Interpretation of all the findings revealed a total of 8 patients had conductive and 9 had mixed hearing loss. All parameters were significantly different than the control group. CONCLUSIONS: This is the first study to comprehensively assess the auditory functions of patients with hepatic glycogen storage disease. Audiological findings determined a significantly increased prevalence of conductive/ mixed type hearing loss in the patient group which is a new finding in the literature. Further studies with extended patient numbers are required to enlighten the underlying pathophysiology.

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.

OBJECTIVES: Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with recurrent episodes of metabolic acidosis, hypoglycemia, hypertriglyceridemia, and hyperketonemia are present. METHODS: In this study, we describe the clinical, biochemical, and molecular genetic features of six unrelated Turkish patients from six different families who were genetically diagnosed with FBPase deficiency in our clinic between 2008 and 2020. Their clinical and laboratory data were collected retrospectively. Next-generation sequencing (NGS) was performed for the molecular genetic analysis. RESULTS: All patients were hospitalized with recurrent hypoglycemia and metabolic acidosis episodes. Three out of six patients were presented in the neonatal period. The mean age at diagnosis was 26 months. NGS revealed a known homozygous gross deletion including exon 2 in three patients (50%), a known homozygous c.910_911dupTT pathogenic variant in one patient (16%), a novel homozygous c.651_653delCAGinsTAA likely pathogenic variant, and another novel homozygous c.705+5G>A splice site variant. Leukocyte FBPase analysis detected no enzyme activity in the patient with homozygous c.705+5G>A splice site variant. CONCLUSIONS: We identified two novel mutations in this study. One of them is a splice site mutation which is five bases downstream of the exon, and the other one is an indel mutation. Both of the splice site and indel mutations are exceedingly rare in FBP1, and to the best of our knowledge, there are second splice site and indel variants reported in the literature. Exon 2 deletion is the most common mutation consistent with the previous reports in Turkish patients. FBPase is a frequent cause of hypoglycemia and metabolic acidosis, and the widespread use of molecular genetic analysis would contribute to the enlightenment of advanced genetic factors and possible genotype/phenotype correlation.

Quality of life of Turkish children and families of Caucasian origin with atopic dermatitis.

INTRODUCTION AND OBJECTIVES: To determine the quality of life (QoL) in Caucasian children with atopic dermatitis (AD) and their families and possible factors that might impact their QoL. MATERIALS AND METHODS: In this cross-sectional study, 83 children aged 2-7 with AD and their families were enrolled as the study group, and 83 age-matched healthy children were included as controls. All patients in the AD and control groups were sorted into two age-based groups: (1) 2-4 and (2) 5-7 years of age. The parents of all children completed the Turkish version of the Pediatric Quality of Life Inventory (PedsQL).The Family Impact Scale for Dermatological Diseases (FIS-DD) was administered to the study group. Disease severity was evaluated with the Patient-Oriented Scoring Atopic Dermatitis (PO-SCORAD) scale. RESULTS: In both age groups, a negative correlation between the PedsQL and the FIS-DD scores (p < 0.001) was found. A positive correlation was found between the PO-SCORAD and FIS- DD scores among the second age group (p = 0.011). In the first age group, AD patients with comorbid allergic diseases had higher FIS-DD scores than those without any other allergic problems (p = 0.007). CONCLUSIONS: We suggest that considering family QoL may positively contribute to the treatment of pre-school age AD children.

Quality of life of Turkish children and families of Caucasian origin with atopic dermatitis

INTRODUCTION AND OBJECTIVES: To determine the quality of life (QoL) in Caucasian children with atopic dermatitis (AD) and their families and possible factors that might impact their QoL. MATERIALS AND METHODS: In this cross-sectional study, 83 children aged 2-7 with AD and their families were enrolled as the study group, and 83 age-matched healthy children were included as controls. All patients in the AD and control groups were sorted into two age-based groups: (1) 2-4 and (2) 5-7 years of age. The parents of all children completed the Turkish version of the Pediatric Quality of Life Inventory (PedsQL). The Family Impact Scale for Dermatological Diseases (FIS-DD) was administered to the study group. Disease severity was evaluated with the Patient-Oriented Scoring Atopic Dermatitis (PO-SCORAD) scale. RESULTS: In both age groups, a negative correlation between the PedsQL and the FIS-DD scores (p < 0.001) was found. A positive correlation was found between the PO-SCORAD and FIS- DD scores among the second age group (p = 0.011). In the first age group, AD patients with comor­bid allergic diseases had higher FIS-DD scores than those without any other allergic problems (p = 0.007). CONCLUSIONS: We suggest that considering family QoL may positively contribute to the treat­ment of pre-school age AD children

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