The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B 12 metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrelated Chinese patients. Sequence analysis identified 98.1% of disease alleles and found that all patients had at least one MMACHC mutation. A total of 24 mutations were identified. Out of the 24 mutations identified, 9 were novel ones, including missense mutations (c.365A4T and c.452A4G), nonsense mutations (c.315C4G and c.615C4A), deletions (c.99delA and c.277-3_c.303del30), duplications (c.248dupT and c.626dupT) and an insertion (c.445_446insA). The c.609G4A, c.658_660delAAG, c.482G4A, c.394C4T and c.80A4G mutations were the most common mutations and accounted for 80% of disease alleles. Haplotype analysis suggests that the spread of the c.80A4G, c.609G4A and c.658_660delAAG mutations in Chinese patients were caused by a founder effect. The results indicate that defects occurring in the MMACHC gene are the major cause of this disease in Chinese patients with combined MMA and HC, and direct mutation analysis can therefore be used as a rapid confirmatory diagnosis among these Chinese patients.

Vinegar was produced from barley-, sweet potato-, and rice-shochu post-distillation slurry using jar fermentor within 19 hrs. All the vinegars showed radical-scavenging activity, angiotensin I converting enzyme (ACE) inhibition and advanced glycation endproducts (AGE) inhibition in vitro. The radical-scavenging activity of the vinegar produced from sweet potato-shochu post-distillation slurry was higher than that of other two kinds of vinegar on the organic matter basis. The ACE inhibitory activities of all the vinegars were higher than that of each post-distillation slurry. The main components that showed ACE inhibitory activity would be peptides, and their content increased during acetic acid fermentation. Regarding AGE inhibition, only rice-shochu post-distillation slurry did not show such activity, but the other two post-distillation slurries and all the vinegars showed clear inhibitory activity. The activity appeared to depend on the concentration of amino groups except for sweet potato-shochu post-distillation slurry and the vinegar produced from it.

The mut-type methylmalonic aciduria (MMA, MIM 251000) is caused by a deficiency of mitochondrial methylmalonyl-CoA mutase (MCM, E.C. 5.4.99.2) activity, which results from defects in the MUT gene. To elucidate the mutation spectrum of the MUT gene in Chinese MMA patients, 13 exons of the MUT gene, including untranslated regions, were analyzed by PCR-based sequencing for 42 unrelated Chinese MMA patients. All the 42 patients were found to have at least one MUT mutation. A total of 41 mutations were identified. Of these mutations, 20 were JIMD Reports

Objective To evaluate the efficacy of living‐donor liver transplantation (LDLT) in children with tyrosinemia type I. Methods Altogether 10 patients diagnosed with tyrosinemia type I underwent LDLT between June 2013 and April 2019. Cirrhosis was the indication for LDLT in all 10 patients, and hepatocellular carcinoma (HCC) was suspected in nine. Patients' outcomes, including liver function, restoration of metabolism, quality of life and physical development, were analyzed after LDLT. Results All recipients were alive with a normal liver function after a median follow‐up period of 49 months. Pathological examinations detected HCC in one patient, dysplasia in five and cirrhosis in all. Nine patients were found to have elevated alpha‐fetoprotein level, and their median alpha‐fetoprotein level dropped from 2520 ng/mL to a normal level after LDLT, with no recurrence of HCC detected during the follow‐up. Tyrosine metabolism was restored to its normal level with normalized plasma tyrosine and succinylacetone concentrations. Moreover, urinary succinylacetone excretion decreased significantly during the follow up. LDLT improved patients’ renal tubular function, as evidenced by the normalized plasma phosphate concentration and improved glomerular filtration rate. Severe rickets symptoms, including spontaneous fractures and bone pain, were also ameliorated. Improved motor function was reported by all patients' parents during the follow‐up. Dietary restriction was no longer required, which was associated with a favorable catch‐up in growth and improved quality of life. Complete resolution of hypertrophic cardiomyopathy was observed one year after LDLT in one patient. Conclusion LDLT is an effective treatment for patients with end‐stage liver disease resulting from tyrosinemia type I.