Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. [books.google.com]

The truncated acetoacetyl-CoA thiolase was solely present in cytoplasm, and the absence of acetoacetyl-CoA thiolase in peroxisomes had no effect on growth on all carbon sources employed. [okayama.pure.elsevier.com]

[…] with methods of the present teachings. [google.com]

The association of recurrent attacks of severe ketoacidosis with blood glucose levels generally high or normal, low lactacidemia and low ammonemia is the most common presentation of these disorders. [karger.com]

The present study concerns a patient with partial cytosolic acetoacetyl-CoA thiolase deficiency. The patient developed apparently normal during the first 2 months of life, but deteriorated rapidly during the following months. [nature.com]

• Failure to Thrive

  They may develop seizures, coma, and failure to thrive as toxic ammonia accumulates. [smpdb.ca]

• Seizure

  Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures. [smpdb.ca]

  Gelastic seizures Generalized epilepsy with febrile seizure plus (GEFS+) Glucose transporter protein deficiency (De Vivo disease). [neurometplus.com]

  Pyridoxine Responsive Seizures Pyrimidine-5-Nucleotidase Deficiency Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency Pyruvate Kinase Deficiency … Q Quinoid Dihydropteridine Reductase Deficiency [climb.org.uk]

  […] deficiency Ethanolaminosis Etiocholanolone fever Extensive metabolizer due to cytochrome p450 CYP2D6 variant Familial cardiomyopathy Fast acetylator due to N-acetyltransferase enzyme variant Folic acid deficiency Folic acid deficiency Folinic acid responsive seizure [icdlist.com]

• Lethargy

  The clinical expression, characterized by ketoacidosis, vomiting and lethargy, is highly variable. Typical age of onset is between 6 and 24 months. [ncbi.nlm.nih.gov]

  At 20 months he was admitted to Naga Hospital because of frequent vomiting and lethargy, following a history of 2 days of febrile epi- sode and wheezing. [docslide.com.br]

• Global Developmental Delay

  developmental delay 33 HP:0001263 3 increased serum lactate 33 HP:0002151 4 generalized hypotonia 33 HP:0001290 5 increased serum pyruvate 33 HP:0003542 Symptoms via clinical synopsis from OMIM: 58 Laboratory Abnormalities: increased serum lactate increased [malacards.org]

• Base Deficit

  He was lethargic and hypothermic; arterial blood gas determination revealed a pH of 7.16; the bicarbonate was 9.3, and there was a base deficit of −17.4. [pediatrics.aappublications.org]

• Colitis

  A significant increase in hydrogen peroxide formation was observed in ulcerative colitis biopsies. Conclusion: A defect of mitochondrial acetoacetyl CoA thiolase occurs in ulcerative colitis. [gut.bmj.com]

  Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. [link.springer.com]

As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. [books.google.com]

Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. [link.springer.com]

Our 5-star rated app gives rapid access to guidance on diagnosis, treatment, medications, follow-up, and associated factors for hundreds of diseases and conditions. [unboundmedicine.com]

The prognosis is relatively good if acute episodes of ketoacidosis and dehydration are adequately treated. There is abnormal urinary excretion of 2-methyl-3-hydroxybutyric acid, tiglylglycine, and in some instances also 2-methyl-acetoacetic acid. [ncbi.nlm.nih.gov]

ACE I/D, AGT M/T, AT1 A/C, CYP11B2 T/C polymorphism appears to have no relation to the short-term prognosis in HD patients. The mortality did not differ among groups with different genotypes of ACE I/D, AGT M/T AT1 A/C, CYP11B2 T/C polymorphisms. [genes2cognition.org]

RAAS genes are potential etiological candidates for cardiovascular damage. [genes2cognition.org]

Gene Disorder Aliases PubMed IDs acat2 deficiency cytosolic acetoacetyl-coa thiolase deficiency - elite association - COSMIC cancer census association via MalaCards Relevant External Links for ACAT2 Genetic Association Database (GAD) ACAT2 Human Genome Epidemiology [genecards.org]

For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995). [books.google.com]

Fakheri RJ, Javitt NB. (2011) Autoregulation of cholesterol synthesis: physiologic and pathophysiologic consequences. Steroids, 76 (3): 211-5. [PMID:20951718] 14. [guidetopharmacology.org]

Genetic variability may reveal pathophysiological pathways underlying weight gain associated with TZD therapy and due to adiposity and/or edema. [genes2cognition.org]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]

Jingami H, Brown MS, Goldstein JL, Anderson RG, Luskey KL. (1987) Partial deletion of membrane-bound domain of 3-hydroxy-3-methylglutaryl coenzyme A reductase eliminates sterol-enhanced degradation and prevents formation of crystalloid endoplasmic reticulum [guidetopharmacology.org]

Akt functions in: (1) increasing cell proliferation by promoting the degradation of p27 (CDKN1B) through the upregulation of SKP2; (2) enhancing protein translation (and subsequently increasing cell proliferation) by activating mTOR kinase; (3) and preventing [smpdb.ca]

Alpha-keto-isovalerate as a biomarker of prebiotic efficacy for weight gain prevention US9523671B2 ( en ) 2013-03-28 2016-12-20 Nestec S.A. [google.com]

In one approach, alcohol dehydrogenases were deleted, the reactions of the Pdh bypass were overexpressed, and the withdrawal of acetyl-CoA into the glyoxylate cycle was prevented [ 18 ]. [biotechnologyforbiofuels.biomedcentral.com]