See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .
These diseases are rare, autosomal recessive Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more disorders that result in accumulation of cholesteryl esters and triglycerides, mainly in lysosomes of histiocytes, resulting in foam cells in the liver, spleen, lymph nodes, and other tissues. Serum low-density lipoprotein (LDL) is usually elevated.
Wolman disease is the more severe form, manifesting in the first weeks of life with poor feeding, vomiting, and abdominal distention secondary to hepatosplenomegaly; infants usually die within 6 months if untreated.
Cholesteryl ester storage disease is less severe and may not manifest until later in life, even adulthood, at which time hepatomegaly may be detected; premature atherosclerosis, often severe, may develop.
Diagnosis is based on clinical features and DNA analysis and/or detection of acid lipase deficiency in liver biopsy specimens or cultured skin fibroblasts, lymphocytes, or other tissues. Prenatal diagnosis is based on the absence of acid lipase activity in cultured chorionic villi. (Also see testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .)
Until 2015 there was no treatment, and very few infants survived beyond the first year of life. Lysosomal acid lipase deficiency can now be treated with sebelipase alfa, a recombinant form of the deficient enzyme.
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Online Mendelian Inheritance in Man® (OMIM®) database: Complete gene, molecular, and chromosomal location information
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