Results 41 to 50 of about 1,764 (178)
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. [PDF]
, 2014 BACKGROUND: Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis.
Akrami, S.M. +4 more
core +1 more source
Effect of succinylacetone on heme and cytochrome P450 synthesis in hepatocyte culture [PDF]
FEBS Letters, 1983 The effects of succinylacetone, a tyrosine metabolite, on the hepatic biosynthesis of heme and cytochrome P450 were studied in primary culture of chick embryo hepatocytes. Succinylacetone potentiated the phenobarbital‐mediated induction of δ‐aminolevulinate synthase, strongly inhibited porphobilinogen synthase activity, reduced cellular heme ...
Giger, Urs, Meyer, Urs A.
openaire +2 more sources
, 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA).
Bukhari, Marwan +2 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2022 Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment.We presented the follow up of the
Jaka Sikonja +15 more
doaj +1 more source
Mitochondrial Dysfunction Induces Formation of Lipid Droplets as a Generalized Response to Stress [PDF]
, 2013 Lipid droplet (LD) formation is a hallmark of cellular stress. Cells attempt to combat noxious stimuli by switching their metabolism from oxidative phosphorylation to glycolysis, sparing resources in LDs for generating cellular reducing power and for ...
Choi, Augustine M. K. +3 more
core +3 more sources
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype [PDF]
, 2013 BACKGROUND: Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis.
Cliften, Paul +6 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2009 A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver.
Kvittingen Eli-Anne +4 more
doaj +1 more source
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
core +3 more sources
Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots [PDF]
Clinical Chemistry, 2008 Abstract Background: Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic because determination of the diagnostic marker, succinylacetone (SUAC), requires a separate first-tier or only partially effective second-tier analysis based on tyrosine ...
Coleman, Turgeon +8 more
openaire +2 more sources
Type 1 tyrosinemia in Finland: a nationwide study
Orphanet Journal of Rare Diseases, 2020 Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä +8 more
doaj +1 more source