Metachromatic Leucodystrophy: Study of the Free Amino Acids in Blood , Urine, Saliva and Cerebrospinal Fluid.
نویسندگان
چکیده
MATERIAL — T w o fami l ia l cases (cous ins) of the late j u v e n i l e type of metachromat ic leucodystrophy w e r e studied. T h e diagnosis was based on the cl inical picture plus the f inding of me tachromat ic bodies in urine (Aus t in t e s t 1 ) , sal iva, and CSF (Canelas et a l . 1 2 ) , as we l l as in biopsies of per ipheral nerve , l iver , and kidney. T h e cl inical and labora tor ia l data on these cases are ex tens ive ly reported e l sewhere " .
منابع مشابه
The Diagnosis of Metachromatic Leucodystrophy during Life.
Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...
متن کاملP 4: The Hypothesis Detect Multiple Sclerosis in Early Stage with Saliva Testing
Introduction: Recent studies point to the clinical and research efficacy of saliva as a respected diagnostic aid for observing Multiple Sclerosis. The objectives of this Hypothesis are to identify novel biomarkers recognized to Multiple Sclerosis in early stage in saliva and to determine if the levels of these markers correlate with level of these Cerebrospinal fluid and blood assays and urine ...
متن کاملDetermination of Antibiotic Resistance Pattern of Bacteria Isolated from Blood, Cerebrospinal Fluid, and Urine Samples in Neonatal Intensive Care Unit of Ali Asghar Hospital, Iran during 2013-15
Background: Infections are one of the most important causes of death in infants, especially in developing countries. Inappropriate use and administration of antibiotics can contribute to the resistance and spread of infection. In this study, we determined the antibiotic resistance pattern of the bacteria isolated from clinical samples of blood, cerebrospinal fluid, and urine in the neonatal int...
متن کاملA Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
متن کاملChanges in free amino acids in the plasma during hepatic coma.
Previous reports frmm various laboratories have ances of protein metabolism, which emphasized the failure to demonstrate consistent and significant biochenjicalchanages during hepatic coma (1-3). However, a cross increase of amino acids in the plasma, urine and spinal fluid (4, 5) and an elevation of ammonia in the blood (6-9) have been observed to accompany hepatic coma. Since diseases of the ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 22 شماره
صفحات -
تاریخ انتشار 1964