A case of transcobalamin II deficiency with several unique features is described. The clinical presentation was typical, except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/ml). Several cobalamin-binding protein abnormalities coexisted and antedated coba...

Aspartoacylase (ASPA)-deficient patients [Canavan disease (CD)] reportedly have increased urinary excretion of N-acetylaspartylglutamate (NAAG), a neuropeptide abundant in the brain. Whether elevated excretion of urinary NAAG is due to ASPA deficiency, resulting in an abnormal level of brain NAAG, is examined using ASPA-deficient mouse brain. The level of NAAG in the knockout mouse brain was si...

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RC...

Using in situ hybridization and immunocytochemistry, we studied a muscle biopsy sample from a patient with Kearns-Sayre syndrome (KSS) who had a deletion of mitochondrial DNA (mtDNA) and partial deficiency of cytochrome-c oxidase (COX; EC 1.9.3.1). We sought a relationship between COX deficiency and abnormalities of mtDNA at the single-fiber level. COX deficiency clearly correlated with a decre...

In type 2 diabetes mellitus (DM2), the impaired functions of brain insulin system are associated with weakened transport through blood-brain barrier due to resistance. Insulin deficiency in can be corrected by intranasal administration (II), whose effect may enhanced C-peptide (ICP). this work, we study treating hyperinsulinemic and normoinsulinemic DM2 rats ICP (36 µg/rat/day), II (20 µg/rat/d...

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of...

Leaves of plants possessing the C4-dicarboxylic acid CO2fixation pathway (14) are characterized by outer mesophyll cells containing granal chloroplasts and inner bundle sheath cells which contain chloroplasts with varying degrees of grana development depending on the species. As judged by Hill activities and fluorescence yield, bundle sheath chloroplasts which contain few grana have less photos...

Angiotensin II causes cardiovascular injury in part by aldosterone-induced mineralocorticoid receptor activation, and it can also activate the mineralocorticoid receptor in the absence of aldosterone in vitro. Here we tested whether endogenous aldosterone contributes to angiotensin II/salt-induced cardiac, vascular, and renal injury by the mineralocorticoid receptor. Aldosterone synthase knocko...

The development of vitamin K deficiency, vitamin K requirement and warfarin susceptibility were studied in several types of warfarin-resistant .and non-resistant rat. Domesticated HW strain rats needed about 13 times as much vitamin Kl as did Wistar rats to maintain normal blood-clotting function, while HS strain rats were intermediate in this and in their susceptibility to warfarin. The vitami...

Objectives-Carnitine palmitoyltransferase (CPT) deficiency is one of the most common defects of mitochondrial fatty acid oxidation. Two different enzymes (CPT-I and CPT-II) are involved. Due to problems in measuring enzyme activity, relatively little is known about the substrate specificity of each of the human enzymes. This is of considerable importance in the treatment of patients. The object...