Absence of acidosis in the initial presentation of propionic acidaemia.
نویسندگان
چکیده
The clinical presentation and results of the initial biochemical and haematological investigations in 11 newborn term infants with propionic acidaemia are described. All patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood ammonia. A diagnosis of propionic acidaemia should be considered in all newborn infants with unexplained neurological deterioration even in the absence of a metabolic acidosis.
منابع مشابه
[Propionic acidemia and long QT syndrome: A potentially serious combination].
Propionic acidaemia (OMIM 606054) is an autosomal recessive organic acid metabolism disorder that involves a defective form of propionyl-CoA carboxylase (PCC). The disease usually manifests with acute and potentially fatal episodes of metabolic decompensation and delays in cognitive development. Its association with cardiomyopathy, usually dilated, is well known, and usually manifests during th...
متن کاملClinical Spectrum of Propionic Acidaemia
Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. R...
متن کاملPROLONGED PARALYSIS AS AN UNUSUAL PRESENTATION OF RENAL TUBULAR ACIDOSIS
A case of renal tubular acidosis (RTA) who had gradual onset of paralysis of lower extremities and persisted for a long time is presented. His primary workups were mistaken for muscular dystrophy. Eventually, an abdominal ultrasonography revealed small stones in both of the kidneys and his workup for the stones were in favor of distal renal tubular acidosis and advanced rickets with hypokal...
متن کاملFeasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal ...
متن کاملInhibition of mitogen-activated proliferation of human peripheral lymphocytes in vitro by propionic acid.
Recurrent infections are common features in patients affected by propionic acidaemia (McKusick 232000) and methylmalonic acidaemia (McKusick 251000). Since these disorders are biochemically characterized by tissue accumulation of propionic acid and methylmalonic acid respectively, it is possible that these compounds may act as immunosuppressants. We therefore investigated the effect of propiona...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of disease in childhood. Fetal and neonatal edition
دوره 72 3 شماره
صفحات -
تاریخ انتشار 1995