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Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food.
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Carnitine-acylcarnitine and translocase
If the fatty acyl-CoA has a long chain ( 10 or more carbons ) then it is reacted with carnitine to form acylcarnitine, which is transported across the inner mitochondrial membrane by a Carnitine-acylcarnitine translocase.
* Carnitine-acylcarnitine translocase deficiency-Carnitine-acylcarnitine translocase
* Carnitine-acylcarnitine translocase ( CACT ) is an integral inner mitochondrial membrane protein that transports palmitoylcarnitine from the intermembrane space into the matrix in exchange for a molecule of free carnitine that is subsequently moved back out of the mitochondria into the cytosol.
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance.
# REDIRECT Carnitine-acylcarnitine translocase deficiency
# REDIRECT Carnitine-acylcarnitine translocase deficiency
# REDIRECT Carnitine-acylcarnitine translocase deficiency
translocase and deficiency
* Ornithine translocase deficiency
The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours of life.
translocase and is
After the new amino acid is added to the chain, the energy provided by the hydrolysis of a GTP bound to the translocase EF-G ( in prokaryotes ) and eEF-2 ( in eukaryotes ) moves the ribosome down one codon towards the 3 ' end.
Additionally, a 51 amino acid insertion has been identified in SecA preprotein translocase which is shared by various members of the phylum < i > Aquificae </ i > as well as 2 < i > Thermotoga </ i > species.
Protein E is a 91-amino acid membrane protein that causes host cell lysis by inhibiting the host translocase MraY.
translocase and from
CPT II catalyzes the formation of palmitoyl-CoA from palmitoylcarnitine imported into the matrix via the acylcarnitine translocase.
translocase and into
Proteins are ferried into the matrix via the translocase of the inner membrane ( TIM ) complex or via Oxa1.
The transport of the exogeneous DNA into the cells may require proteins that are involved in the assembly of type IV pili and type II secretion system, as well as DNA translocase complex at the cytoplasmic membrane.
translocase and .
Larger proteins can enter the mitochondrion if a signaling sequence at their N-terminus binds to a large multisubunit protein called translocase of the outer membrane, which then actively moves them across the membrane.
The DNA first binds to the surface of the competent cells on a DNA receptor, and passes through the cytoplasmic membrane via DNA translocase.
Larger molecules can only traverse the outer membrane by active transport through mitochondrial membrane transport proteins, and mitochondrial preproteins are imported through specialised translocase complexes.
Enzymes destined for the mitochondrial matrix or the stroma can pass through the intermembrane space via transport through s. These are known as translocase of the outer mitochondria membrane ( TOM ) and translocase of the inner mitochondrial membrane ( TIM ) in mitochondria and translocase of the outer chloroplast membrane ( TOC ) and translocase of the inner chloroplast membrane ( TIC ) in chloroplasts.
Mutations in the SLC25A20 gene lead to the production of a defective version of an enzyme called carnitine-acylcarnitine translocase.
deficiency and is
If the deficiency persists long enough, it is reasonable to suppose that the Af label will reflect the Af distribution in the thyroglobulin.
this is really a deficiency in the scalar field, namely, that it is not algebraically closed.
This is clearly a deficiency in T.
In West Africa, for example, where meat is a luxury and babies must be weaned early to make room at the breast for later arrivals, a childhood menace is kwashiorkor, or `` Red Johnny '', a growth-stunting protein deficiency ( signs: reddish hair, bloated belly ) that kills more than half its victims, leaves the rest prey for parasites and lingering tropical disease.
An atom containing an equal number of protons and electrons is electrically neutral, otherwise it has a positive charge if there are fewer electrons ( electron deficiency ) or negative charge if there are more electrons ( electron excess ).
"... Baeyer is an excellent experimentor, but he is only an empiricist, lacking sense and capability, and his interpretations of his experiments show particular deficiency in his familiarity with the principles of true science ..."
Chromium deficiency is controversial or is at least extremely rare.
Common competition policy is also helpful to avoid competition deficiency.
Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones ( congenital hypothyroidism ) usually due to maternal hypothyroidism.
Dyslexia is distinct from reading difficulties resulting from other causes, such as a non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction.
For instance, 30 % of the world's population either has, or is at risk for developing, iodine deficiency.
It is estimated that at least 3 million children are blind due to vitamin A deficiency.
If total cash available is less than cash needs, a deficiency exists.
The Edelman algorithm works equally well for sparse and non-sparse data, since it is based on the compressibility ( rank deficiency ) of the Fourier matrix itself rather than the compressibility ( sparsity ) of the data.
Worldwide, the most common cause for goitre is iodine deficiency, usually seen in countries that do not use iodized salt.
Selenium deficiency is also considered a contributing factor.
Hemoglobin deficiency is, in general, strictly distinguished from hypoxemia, defined as decreased partial pressure of oxygen in blood, although both are causes of hypoxia ( insufficient oxygen supply to tissues ).
The major deficiency of Q1 is in the language: particularly noticeable in the opening lines of the famous " To be, or not to be " soliloquy: " To be, or not to be, aye there's the point.
Other classifications used also include: ḥasan ( good ), which refers to an otherwise ṣaḥīḥ report suffering from minor deficiency, or a weak report strengthened due to numerous other corroborating reports ; and munkar ( denounced ) which is a report that is rejected due to the presence of an unreliable transmitter contradicting another more reliable narrator.
This is a great deficiency as trade theory, for intermediate goods occupy the major part of the world international trade.
deficiency and rare
Previous theory held that dietary deficiency is extremely rare unless the intestine ( small bowel ) was heavily damaged, resulting in malabsorption of the molecule.
A few rare genetic disorders, including familial juvenile hyperuricemic nephropathy, medullary cystic kidney disease, phosphoribosylpyrophosphate synthetase superactivity, and hypoxanthine-guanine phosphoribosyltransferase deficiency as seen in Lesch-Nyhan syndrome, are complicated by gout.
* Congenital lactase deficiency is a very rare, autosomal recessive genetic disorder that prevents lactase expression from birth.
In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I.
De Vivo disease ( also known as GLUT1 deficiency syndrome ) is a rare condition caused by inadequate transportation of the sugar, glucose, across the blood – brain barrier, resulting in developmental delays and other neurological problems.
The Colorado City / Hildale, Utah area has the world's highest incidence of fumarase deficiency, an extremely rare genetic condition which causes severe mental retardation.
A deficiency in the soil is rare but iron can be unavailable for absorption if soil pH is not between about 5 and 6. 5.
It has been suggested that he suffered from the endocrine disease acromegaly, or his inbred lineage may have led to a combination of rare genetic disorders such as combined pituitary hormone deficiency and distal renal tubular acidosis.
In adults, deficiency is rare, with the most common cause a pituitary adenoma, and others including a continuation of a childhood problem, other structural lesions or trauma, and very rarely idiopathic GHD.
* Bernard-Soulier syndrome, a rare autosomal recessive coagulopathy, that is caused a deficiency of glycoprotein Ib
Acute deficiency ( see hypomagnesemia ) is rare, and is more common as a drug side effect ( such as chronic alcohol or diuretic use ) than from low food intake per se, but it can also occur within people fed intravenously for extended periods of time.
However, in rare cases, including double X deficiency, the ratio can be much more than half, making the individual almost as sensitive as a male.
Hormone deficiency is a relatively rare cause of erectile dysfunction.
Factor XII deficiency is rare disorder that is inherited in an autosomal recessive manner.
The function of the immune system depends in a large part on interleukins, and rare deficiencies of a number of them have been described, all featuring autoimmune diseases or immune deficiency.
Iron deficiency in adult men from purely dietary causes is quite rare, and in such cases other causes of iron loss must be vigorously sought until found.
Fabry disease ( also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency ) is a rare X-linked ( inherited ) lysosomal storage disease, which can cause a wide range of systemic symptoms.
There are a variety of rare diseases which resemble GH deficiency, including the childhood growth failure, facial appearance, delayed bone age, and low IGF levels.
Such deficiency almost always has an identifiable cause, with adult-onset GHD without a definable cause (" idiopathic GH deficiency ") extremely rare.
* C1 esterase inhibitor deficiency ( hereditary angioedema ); this rare disease generally causes attacks of angioedema, but can present solely with abdominal pain and occasional diarrhea.
In contrast, the diseases pyruvate carboxylase deficiency, porphyria and other rare genetic disorders of fat metabolism prevent any use of the diet.
In humans, certain mutations within this enzyme, which affect the dimerisation of this protein, are causal for a rare disease, triosephosphate isomerase deficiency.
In humans, a rare disorder called plasminogen deficiency type I () is caused by mutations of the PLG gene and is often manifested by ligneous conjunctivitis.
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