Mitochondrial pyruvate carrier deficiency: 3 cases report and literature review / 中华儿科杂志

Objective: To analyze the clinical and genetic features of patients with mitochondrial pyruvate carrier deficiency (MPYCD). Methods: This was a case series research. The clinical data, genetic characteristics, and glutamine treatment efficacy of 3 patients diagnosed with MPYCD at the Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, Guizhou Provincial People's Hospital, from August 2019 to June 2023 were retrospectively collected. A literature search with "MPC1 gene" "MPC2 gene and" "mitochondrial pyruvate carrier deficiency" as keywords was conducted at the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure (CNKI) and PubMed (up to June 2023). Clinical and genetic characteristics of patients with MPYCD were summarized. Results: Case 1 was a 3 years and 11 months old boy, while case 2 was a 4 years and 10 months old boy and case 3 was an 8 years and 9 months old girl. Case 2 and case 3 were siblings from one consanguineous family. All 3 patients presented with general developmental delay, growth failure and elevated serum lactate. Cranial magnetic resonance imaging (MRI) showed subtle bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus in case 1, but normal in case 2 and 3. Trio-WES revealed case 1 harboring compound heterozygous missense variants c.208G>A (p.Ala70Thr) and c.290G>A (p.Arg97Gln) in MPC1 gene, while case 2 and 3 revealed a homozygous variant c.290G>A (p.Arg97Gln) in the same gene. All 3 cases were diagnosecl as MPYCD. Clinical symptoms including motor ability, cognition and activity endurance were improved in these 3 patients after taking glutamine for 2 years. A total of 5 articles published in English were reviewed, and no Chinese literature was found. Including these 3 cases, 15 cases were enrolled for analysis. Eleven patients carried MPC1 gene variants and 4 cases carried MPC2 gene variants. Except for 3 cases died during prenatal period, 9 of 12 enrolled born cases were onset before 6 months old. The most common clinical symptoms were mental and motor general developmental delay, microcephaly, growth failure and hypotonia. All patients had elevated blood lactate and pyruvate, but the ratio of lactate/pyruvate was normal. Seven patients performed cranial MRI, 3 exhibited non-specific changes, 2 showed bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus, and 3 were normal. A total of 5 MPC1 gene missense variants and 2 MPC2 gene variants were identified in 15 cases. Conclusions: Onset age of patients with MPYCD is usually within 6 months. The main clinical characteristics are developmental delay, microcephaly and growth failure, accompanied by increased serum lactate and pyruvate. Glutamine supplement could lead to clinical improvements.

The relation between gastroesophageal reflux disease with or without esophageal injury and esophageal motility and acid reflux / 中华消化杂志

Objective To study the relation of esophageal motility and acid reflux between gastroesophageal reflux disease (GERD) patients with and without esophageal injury.Methods A total of 25 patients who met the GERD diagnosis criteria were conducted esophageal-gastric-duodenal endoscopy examination and followed with high-resolution esophageal manometry.The changes of esophageal pH postprandial were also detected.The differences of esophageal motility and acid reflux time between GERD patients with and without esophageal injury were compared.Patients were divided into non-acid reflux group and acid reflux group according to DeMeester score.The changes of esophageal motility indexes of these two groups were compared.Wilcoxon test and t test were used for statistical analysis.Results There was no significant difference in baseline value of lower esophageal sphincter (LES) pressure,remained LES pressure,speed of the esophageal peristalsis,the time of esophageal pH＜4 and DeMeester score between groups with and without esophageal injury (all P＞0.05).But esophageal contraction amplitude of group with esophageal injury was lower than that of group without esophageal injury (31.9 mm Hg vs 64.2 mm Hg,1 mm Hg=0.133 kPa,Z=-2.37,P=0.02).There was no significant difference in baseline value of LES pressure,remained LES pressure,speed of the esophageal peristalsis between acid reflux group and non acid reflux group (all P＞0.05).But the esophageal contraction amplitude of acid reflux group was lower than that of non acid reflux group (36.4 mm Hg vs 71.8 mm Hg,Z=-2.25,P=0.02).Conclusions There was no significant correlation between the LES pressure and esophageal acid reflux with esophageal injury in GERD patients.Esophageal peristalic contraction may be associated with esophageal injury and acid reflux.