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Literature summary for 1.1.1.211 extracted from

  • Anderson, S.; Brooks, S.S.
    When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex (2013), Neonatal Netw., 32, 262-273.
    View publication on PubMed
Search for more literature for 1.1.1.211

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a long-chain (S)-3-hydroxyacyl-CoA + NAD+ Homo sapiens
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 a long-chain 3-oxoacyl-CoA + NADH + H+
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P40939
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-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a long-chain (S)-3-hydroxyacyl-CoA + NAD+
-
 Homo sapiens a long-chain 3-oxoacyl-CoA + NADH + H+
-
 ?

Synonyms

Synonyms Comment Organism
HADHA
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 Homo sapiens
LCHAD
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 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction long-chain 3-hydroxyacyl-CoA dehydrogenase, LCHAD, deficiency is a defect of the TFP complex caused by a mutation in the HADHA gene on short arm of chromosome 2 (2p23). The most common mutation (1528G.C, G510Q) is responsible for at least one allele in 60–100 percent of individuals with LCHAD deficiency. LCHAD and TFP deficiencies are caused by different genetic mutations in the same protein, mitochondrial trifunctional protein (MTFP). Long-chain fatty acids are broken down by the MTFP after initial metabolism by very long-chain acyl-CoA dehydrogenase. In individuals with LCHAD deficiency, there is one enzymatic defect (3-hydroxylacyl-CoA dehydrogenase) which results in accumulation of long-chain hydroxylacylcarnitines. In TFP deficiency, the process of the b-oxidation includes defects in three enzymes, enoyl-CoA hydratase, 3-hydroxyl-CoA dehydrogenase (LCHAD), and 3-ketothiolase, which results in accumulation of mixed, long-chain acylcarnitine species. Although disorders of trifunctional protein (TFP) complex including longchain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With the expansion of newborn screening, what were once considered uncommon disorders are being identified with increasing frequency in asymptomatic infants. Infants with inborn errors of metabolism can present with breathing difficulties, acidosis (or alkalosis), and hypoglycemia, phenotype, detailed overview Homo sapiens