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Objectives: Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese patients with CGL2., Methods: Three patients diagnosed with CGL2 from our center were reviewed. Data on clinical features, results of laboratory analyses, and previous treatments were retrospectively collected. This study also reviewed studies that reported patients diagnosed with CGL2 in the last 30 years., Results: All patients presented a lack of subcutaneous fat, hypertriglyceridemia, reversed triangular faces, acanthosis nigricans, and hepatomegaly within the first six months of life. All three patients developed splenomegaly, and mental retardation in later life. Dietary control dramatically lowered triglyceride levels in all patients. One patient presented with diabetes mellitus at 1 year-old. Although combined therapy with low fat diet and metformin maintained normal levels of blood lipid and glucose, this patient developed hypertrophic cardiomyopathy at the age of three. By a literature review on all Chinese cases with CGL2, it is known that classic manifestations such as hypertriglyceridemia, hepatomegaly and diabetes mellitus can occur shortly after birth, and early diagnosis and treatment can improve quality of life. In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2., Conclusions: This study not only described the clinical and genetic features of three patients with CGL2 in China, but also reviewed literature about CGL2 around the world., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Background: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China., Method: From January 2009 to March 2012, 16,075 urine samples were collected from patients who were highly suspected of having IEM in Guangzhou Women and Children's Medical Center. The specimens were evaluated using GC-MS., Results: We diagnosed 303 cases of IEM by urine GC-MS analysis, including 197 cases with amino acid disorders, 86 cases with organic acidurias (OAs), 10 cases with fatty acid oxidative (FAO) disorders, and 10 cases with peroxisomal disorders. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was the most common (153 cases), followed by methylmalonic aciduria (48 cases), urea cycle disorders (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), X-linked adrenoleukodystrophy (10 cases), multiple carboxylase deficiency (8 cases), glutaric aciduria type I (7 cases), isovaleric aciduria (6 cases), glutaric aciduria type II (4 cases), short-chain acyl-CoA dehydrogenase deficiency (4 cases), 3-hydroxy-3-methylglutaric aciduria (3 cases), maple syrup urine disease (2 cases), very long-chain acyl-CoA dehydrogenase deficiency (1 case), malonic aciduria (1 case), mevalonic aciduria (1 case), Canavan disease (1 case), lysine protein intolerance (1 case), and medium-chain acyl-CoA dehydrogenase deficiency (1 case). The clinical and laboratory features of IEM are neurologic signs, jaundice, metabolic acidosis, ketotic hypoglycemia, and hyperammonemia., Conclusion: In our study, GC-MS provided a diagnostic clue to OAs, amino acid disorders, FAO, and peroxisomal disorders. Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further.

Background: Due to lack of country-specific norms in China, we established the reference range of plasma amino acids for younger Chinese children by reverse phase high-performance liquid chromatography (HPLC)., Methods: Plasma proteins were precipitated with ethanol. L-Norvaline served as an internal standard. This HPLC method was based on automated precolumn derivatization using o-phthalaldehyde 3-mercaptopropionic acid for primary amino acids and 9-fluorenylmethyl chloroformate for secondary amino acids. Twenty-three amino acid derivatives were separated by a Zorbax Eclipse AAA column and detected fluorometrically. Plasma amino acids were measured in 108 healthy Chinese children (ages 0-5 years, 59 boys and 49 girls)., Results: The assay was linear from 7.2 to 925.0 micromol/L for all amino acids. Recovery of amino acids added to plasma samples was 93%-107%. Within- and between-run reproducibility was 0.18%-6.27% and 2.94%-16.15%, respectively. Sex- and age-specific plasma amino acid reference range for younger Chinese children was established. In our study, the boys had significantly higher levels of glutamine, citrulline, and tryptophan than girls (p < 0.05), and the girls had a significantly higher level of alanine than boys (p < 0.05). Compared with the 0- to 1-year group, the 1- to 5-year group had significantly higher levels of citrulline, valine, phenylalanine, isoleucine, and sarcosine and lower levels of aspartate, glutamate, serine, threonine, alanine, methionine, and tryptophan (p < 0.05)., Conclusions: This study validates the HPLC method described here as a simple, rapid, and reliable assay. The reference range of plasma amino acids for younger Chinese children is different from that for Caucasian children and will facilitate our clinical diagnosis in the future.