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Glycerol Metabolism Disorders


Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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Glycerol is converted to glycerol-3-phosphate by the hepatic enzyme glycerol kinase; deficiency results in episodic vomiting, lethargy, and hypotonia.

Glycerol kinase deficiency is X-linked X-Linked 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 ; many patients with this deficiency also have a chromosomal deletion that extends beyond the glycerol kinase gene into the contiguous gene region, which contains the genes for congenital adrenal hypoplasia and Duchenne muscular dystrophy. Thus, patients with glycerol kinase deficiency may have one or more of these disease entities.

Symptoms of glycerol metabolism disorders begin at any age and are usually accompanied by acidosis, hypoglycemia, and elevated blood and urine levels of glycerol.

Glycerol metabolism disorder treatment is with a low-fat diet, but glucocorticoid replacement is critical for patients with adrenal hypoplasia.

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