Hadj-Taieb Sameh, Nasrallah Fehmi, Hammami Mohamed B, Elasmi Monia, Sanhaji Haifa, Moncef Feki, Kaabachi Naziha
Laboratory of Biochemistry, Rabta Hospital, Tunis, Tunisia.
Tunis Med. 2012 Mar;90(3):258-61.
Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders. In Tunisia, no information is available on the incidence and epidemiological features of these inherited metabolic diseases.
To precise the profile of aminoacidopathies other than phenylketonuria and organic acidurias and to estimate their incidences in Tunisia.
Between 1987 and 2009, our laboratory received 13171 requests for analysis of patients with symptoms suggestive of inborn errors of metabolism. For these cases, ion exchange chromatography of free amino acids was performed on amino acids analyser. Urinary organic acids profiles were determined by gas chromatography-mass spectrometry.
Abnormal cases were 370 (2.8%), divided into 212 cases of aminoacidopathies (57.3%) and 158 cases of organic acidurias (42.7%). The most frequent aminoacidopathies, were maple syrup disease (32.5%), tyrosinemia type I (28.8%) and nonketotic hyperglycinemia (16%). Methylmalonic aciduria (33.5%), propionic aciduria (18.4%) and 2-hyrdoxy glutaric aciduria (10.8%) were the most frequent organic acidurias. The incidences were calculated using the Hardy-Weinberg formula and were estimated at 1/13716 for maple syrup disease, 1/14804 for tyrosinemia type I, 1/16144 for methylmalonic aciduria and 1/23176 for propionic aciduria.
Aminoacidopathies and organic acidurias turned out to be highly frequent in Tunisia, mainly because of a high rate of consanguinity. We believe that they are underestimated. To improve their diagnosis, it is necessary to have available sophisticated equipment which would allow early treatment of patients.
在发展中国家，先天性代谢缺陷被忽视，因为它们不像感染性和营养性疾病那样常见。在突尼斯，尚无关于这些遗传性代谢疾病的发病率和流行病学特征的信息。
明确除苯丙酮尿症和有机酸尿症之外的氨基酸代谢病的概况，并估计其在突尼斯的发病率。
1987年至2009年间，我们实验室收到13171例有先天性代谢缺陷症状患者的分析请求。对于这些病例，在氨基酸分析仪上进行游离氨基酸的离子交换色谱分析。通过气相色谱 - 质谱法测定尿有机酸谱。
异常病例有370例（2.8%），分为212例氨基酸代谢病（57.3%）和158例有机酸尿症（42.7%）。最常见的氨基酸代谢病是枫糖尿症（32.5%）、I型酪氨酸血症（28.8%）和非酮症高甘氨酸血症（16%）。甲基丙二酸血症（33.5%）、丙酸血症（18.4%）和2 - 羟基戊二酸血症（10.8%）是最常见的有机酸尿症。使用哈迪 - 温伯格公式计算发病率，枫糖尿症估计为1/13716，I型酪氨酸血症为1/14804，甲基丙二酸血症为1/16144，丙酸血症为1/23176。
氨基酸代谢病和有机酸尿症在突尼斯的发病率很高，主要原因是近亲结婚率高。我们认为它们被低估了。为了改善其诊断，有必要配备先进设备以便对患者进行早期治疗。
