Cloned (Comment) | Organism |
---|---|
gene HADHA | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E510Q | naturally occuring mutation responsible for LCHAD deficiency | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P40939 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
HADHA | - |
Homo sapiens |
LCHAD | - |
Homo sapiens |
long chain 3-hydroxyacyl-CoA dehydrogenase | - |
Homo sapiens |
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 |