Here I present: “LCHAD Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. LCHAD缺乏症。
INTRODUCTION.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a genetic condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). The Enzyme Commission number of LCHAD is EC# 1.1.1.211.
Sudden infant death syndrome (SIDS) in infants is often a comorbidity with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) step. The alpha subunit harbors the 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.211) and enoyl-CoA hydratase activities (EC 4.2.1.27).
There is evidence that LCHAD deficiency is caused by a mutation in the HADHA gene on cytogenetic location 2p23.3 and genomic coordinates 2:26,190,635-26,244,632 . The screenshot of the HADHA gene 53,998 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HADHA in the 2p23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:25,733,753 | ASXL2 | ASXL transcriptional regulator 2 |
| 2:25,926,598 | KIF3C | Kinesin family member 3C |
| 2:26,033,285 | RAB10 | Ras-associated protein |
| 2:26,173,088 | GAREM2 | GRB2-associated regulator of MAPK1, type 2 |
| 2:26,190,635 | HADHA | Hydroxyacyl-Coenzyme A dehydrogenase α |
| 2:26,244,939 | HADHB | Hydroxyacyl-Coenzyme A dehydrogenase β |
| 2:26,308,173 | ADGRF3 | Adhesion G protein-coupled recetpor F3 |
| 2:26,346,143 | SELENOI | Selenoprotein I |
| 2:26,401,920 | DRC1 | Dynein regulatory complex, subunit 1 |
| 2:26,457,203 | OTOF | Otoferlin |
