UNUSUAL PRESENTATIONS OF PROPIONIC ACIDEMIA

被引:39
作者
OZAND, PT
RASHED, M
GASCON, GG
YOUSSEF, NG
HARFI, H
RAHBEENI, Z
ALGARAWI, S
ALAQEEL, A
机构
[1] KING FAISAL SPECIALIST HOSP & RES CTR,DEPT PEDIAT,RIYADH 11211,SAUDI ARABIA
[2] KING FAISAL SPECIALIST HOSP & RES CTR,DEPT BIOL & MED RES,RIYADH 11211,SAUDI ARABIA
[3] RIYADH ARMED FORCES HOSP,RIYADH,SAUDI ARABIA
关键词
ORGANIC ACIDEMIA; PROPIONIC ACIDEMIA; MASS SPECTROMETRY;
D O I
10.1016/0387-7604(94)90096-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The files of 25 patients with propionic acidemia (PA), followed by the Inborn Errors of Metabolism Service (IEMS) at King Faisal Specialist Hospital and Research Centre (KFSHS&RC) from 1990 to 1993, were studied retrospectively. In 14 patients PA presented acutely with acidosis, hyperammonemia and thrombocytopenia, while in 11 patients the presentation of the disease was unusual. In the latter group, two neonates with PA initially appeared as a primarily hyperammonemic metabolic disease. In two other neonates the vomiting was so severe that they were diagnosed as intestinal obstruction in referral hospitals. The presentation in three infants was primarily as an immune disorder. In four infants, PA appeared as an acute or chronic encephalopathy, i.e. as a silent organic acidemia, with few other findings of the disease. The clinical picture of PA includes facial and nipple dysmorphia, severe hypotonia and vomiting. Severe thrombocytopenia is the hallmark of the metabolic crisis. In one patient it was noticed late and caused intracranial hemorrhage, while in three others intracranial bleeding caused death. The prognosis in PA remained grave despite rigorous treatment. Only seven of the 25 PA patients remained to have a normal life-style, while eight patients expired. The diagnosis is readily achieved by urine gas chromatography/mass spectrometry (GC/MS), by tandem mass spectrometry (MS/MS), or by enzyme analysis of fibroblasts. While there may be both examiner- and patient-related reasons for the variations in the presentation of PA, one other reason may be the heterogeneity of the molecular defect in propionyl-CoA carboxylase.
引用
收藏
页码:46 / 57
页数:12
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