Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

Abstract

During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong Kong. These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases. A spot urine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis. Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. There were also single suspected cases of medium-chain acyl-CoA dehydrogenase deficiency and isovaleric aciduria. No primary amino acid disorder, such as phenylketouria and maple syrup urine disease, has been detected. Our results suggest that a different pattern of inherited metabolic diseases exists in the southern Chinese when compared with the Chinese in other regions of China.

Novel mutations causing medium chain acyl‐CoA dehydrogenase deficiency: Under‐representation of the common c.985 A > G mutation in the New York state population

“…This is the first Korean patient reported with MCAD deficiency and the first MCADD case reported in an individual of Asian descent in the United States. MCADD is thought to be very rare in the Asian population, with only 3–6 cases identified in Japan [Shigematsu et al, 2002; Tajima et al, 2004], one in Thailand [Wasant et al, 1999] and one in China [Pang et al, 1997]. Since the common p.K304E mutation has not been reported in this ethnic group, which comprises more than 6% of the NYS population, it is likely that more MCADD cases will be identified in this population.…”

International Perspectives

“…(21) In contrast, the incidence of classic PKU in northern provinces of China (1 in 16,500) is comparable to that in western countries (1 in 10,000 live births). However, it has not been reported in the Hong Kong population.…”

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

“…While most patients in our study cohort had a rather good outcome, one patient died at the age of 2 years after suffering severe disability following his first ketoacidotic episode at the age of 8 months. Other cases with fatal outcome have been described before [25,[37][38][39][40][41][42][43][44], underlining that MATD is a potentially life-threatening disease. On the other hand, in 69% of patients metabolic decompensations could be prevented after the diagnosis was made, and none of the patients had more than three ketoacidotic episodes.…”