Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
BMC Pediatr. 2010 May 17;10:32. doi: 10.1186/1471-2431-10-32.
The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A.
We report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis) apparently non related to PKU.
This is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.
同一患者同时存在两种遗传上不同的代谢紊乱极为罕见。苯丙酮尿症（PKU）是一种代谢性遗传病，由苯丙氨酸羟化酶缺乏引起。法布雷病（FD）是一种 X 连锁溶酶体贮积病，由于α-半乳糖苷酶 A 缺乏。
我们报告了一例 3 岁男孩同时患有经典型 PKU 和 FD，分子数据均证实了这两种疾病。21 个月大时，由于存在非特异性胃肠道症状（严重腹痛和周期性出现非特异性肠胃炎发作），FD 被怀疑存在，但与 PKU 无关。
这是 FD 和 PKU 同时存在的首例报告，这两种疾病是两种不同的先天性代谢缺陷，考虑到每种疾病的发病率，这种偶然的关联是一种非常罕见的事件。这两种疾病的共存使得对缺乏食欲、严重腹痛和非特异性肠胃炎发作等临床症状的正确解释变得非常困难。此外，本病例报告有助于确定 FD 的早期临床表型。
