Literature summary for 1.1.1.211 extracted from

Erdol, S.; Ture, M.; Baytan, B.; Yakut, T.; Saglam, H.
An unusual case of LCHAD deficiency presenting with a clinical picture of hemophagocytic lymphohistiocytosis: secondary HLH or coincidence? (2016), J. Pediatr. Hematol. Oncol., 38, 661-662.

Search for more literature for 1.1.1.211

Cloned(Commentary)

Cloned (Comment)	Organism
gene HADHA	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
E510Q	naturally occuring mutation responsible for LCHAD deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P40939	-	-

Synonyms

Synonyms	Comment	Organism
HADHA	-	Homo sapiens
LCHAD	-	Homo sapiens
long chain 3-hydroxyacyl-CoA dehydrogenase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	a patient with hemophagocytic lymphohistiocytosis and LCHAD deficiency suffers pancytopenia, liver failure, and rhabdomyolysis. LCHAD deficiency, especially in 1 to 6 months old infants with laboratory findings of hypoglycemia, metabolic acidosis, and elevated creatine kinase, may also have hemophagocytic lymphohistiocytosis (HLH), a secondary HLH may develop in patients with LCHAD deficiency	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)