Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and pyruvate in cerebrospinal fluid were found to be increased. Liver biopsies revealed a decrease in pyruvate carboxylase activity and normal pyruvate decarboxylase activity. No inhibitor of TPP-ATP phosphoryl transferase was detected in urine from the patients. These findings suggest that congenital lactic acidosis due to pyruvate carboxylase deficiency is probably a different disease entity from Leigh's encephalomyelopathy. A possible mechanism of brain damage caused by a defect in pyruvate carboxylase is postulated.
 ...
PMID:Congenital lactic acidosis due to pyruvate carboxylase deficiency: absence of an inhibitor of TPP-ATP phosphoryl transferase. 20 66

Patients (n = 104) were judged to be thiamine deficient by the criteria of erythrocyte transketolase activity (ETK) less than 0.6 U/g of hemoglobin, or greater than 17% increase in this activity on addition of thiamine pyrophosphate in vitro (TPP effect). ETK activated by TPP in vitro (AETK) was related to ETK by a linear regression of slope greater than or equal to 1, implying that transketolose apoenzyme (apoTK) was constant or decreased as ETK decreased. For most patient groups the value of apoTK was 0.1 U/g and the slope 1.033 to 1.050. In the subgroup of non-vomiting drinkers with Wernicke's encephalopathy (WE), the slope of the linear regression of AETK on ETK was 1.21, so that apoTK decreased as ETK decreased. Comparison of these data is consistent with a difference in the TK of WE drinkers from that of others. Generally, any variation of TPP effect was due only to variation of ETK. We recommend measurement of ETK, without TPP effect, for the assessment of thiamine nutrition.
 ...
PMID:The relationship between erythrocyte transketolase activity and the 'TPP effect' in Wernicke's encephalopathy and other thiamine deficiency states. 207 41

The objective of this review is to summarize the pharmacology, efficacy, and safety of cerliponase alfa for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase alfa is recombinant human tripeptidyl peptidase 1 enzyme replacement therapy. A phase 1/2 trial established the efficacy and safety of cerliponase alfa for treatment of neuronal ceroid lipofuscinosis type 2. Treatment with intracerebroventricular cerliponase alfa resulted in slower decline of motor and language functions compared with natural history controls. Common adverse events include convulsions, electrocardiography abnormalities, pyrexia, vomiting, and upper respiratory tract infections. Intracerebroventricular device-related adverse events also occur. Cerliponase alfa is the first therapy for neuronal ceroid lipofuscinosis type 2 that targets the disease etiology. Cerliponase alfa is effective in delaying the progression of motor language decline for patients with neuronal ceroid lipofuscinosis type 2.
 ...
PMID:Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2. 3188 68