Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the ACADM gene. As it is the most commonly inherited disorder of the mitochondrial fatty acid oxidation in Caucasians, there are no related reports in China diagnosed by molecular genetic testing. We report here the case of a 2-year-old female patient who had hepatomegaly and abnormal liver function with a common illness, and who had been healthy before. A marked increase found in the concentration of C8-carnitine with the help of tandem mass spectrometry (MS/MS) profile, as well as the presence of hexanoylglycine and cyclohepta acyl glycinate as shown in the urinary gas chromatography/mass spectrometry (GC/MS) were suggestive of MCADD, a diagnosis that was confirmed by genetic analysis that showed compound heterozygosity for a missense mutation, c.362C>T(p.Thr121Ile), and a 4-bp deletion, c.448-453delCTGA, in the medium-chain acyl-coenzyme A dehydrogenase (MCAD) gene, also named ACADM gene. There are no related reports in China. This report broadens the phenotype and genotype of MCADD in China and underlines the difficulty of diagnosis.

Ontogenic expression of somatostatin (SRIF)—messenger RNA (mRNA) in the gastrointestinal tract was examined in neonatal rats aged from 1 day preterm to 60 days postpartum in comparison with that in the hypothalamus. SRIF‐mRNA in the hypothalamus was already expressed in prenatal rats and its developmental change was relatively small. In contrast, a unique pattern of SRIF‐mRNA expression was seen in the different intestinal regions, gastric antrum, duodenum, jejunum and colon. In the duodenum, SRIF‐mRNA level was low at birth, markedly increased during the postnatal 3 days and declined to the previous level by day 21. Jejunal SRIF‐mRNA was found in neonates but progressively decreased in a similar way to duodenum. On the contrary, gastric SRIF‐mRNA level, which was low during early development, rose rapidly to a peak on day 21 and gradually declined to an adult level. In the colon age‐related change was not conspicuous, remaining at a low level. These results indicate that (1) expression of SRIF gene in the intestinal tract is regulated by local factor(s) as well as developmental stage, and (2) shift of SRIF‐mRNA pattern occurs during weaning from the duodenum‐dominant infantile pattern to the gastric‐dominant adult pattern.