Name short: LCHADD

Name long: Long-chain L-3- hydroxyacyl-CoA dehydrogenase deficiency

Description: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

Incidence in the US 2001-2010: 67 in 24.4 million screens (3 cases per million).

Implicated genes:
Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit, HADHA


Variants in HADHA (see gnomAD page):
total variable positions: 606
rare variants: 0
common variants: 0
Allele frequency of rare (<0.001) variants and the implied number of homozygotes and compound heterozygotes, per million births (under the naive assumption that gnomAD captures all variants present in the human population; PSC = premature stop codon):

Population All rare variants Rare, resulting in PSC Rare, not intronic and not silent Known disease related All presumably detrimental
all 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
afr 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
amr 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
asj 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
eas 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
fin 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
nfe 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
oth 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0
sas 0 => 0 0 => 0 0 => 0 0 => 0 0 => 0


Expected number of homozygotes/compound heterozygotes in a demographic profile close to the US, using all known (as in, listed in gnomAD) rare nontrivial variants as causative variants: 0.

Expected number of homozygotes/compound heterozygotes in a demographic profile close to the US, using all presumably harmful variants as causative variants: 0.



Total estimated number of casses per million (all presumably harmful variants): 0.

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