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Zpráva o onemocněních · Metabolic

Glycerol Kinase Deficiency

Whole genome sequencing reads the GK gene on the X chromosome for inherited changes that affect how the body uses glycerol, a building block of fats, and that can be mistaken for very high triglycerides.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited condition in which the body cannot use glycerol, a building block of fats. It can be mistaken for very high triglycerides in blood tests and is caused by changes in the GK gene on the X chromosome.

Glycerol kinase deficiency is an inherited condition in which the body cannot use glycerol, a building block of fats. In the isolated adult form, blood glycerol is raised, and this can be mistaken for very high triglycerides that resist lipid-lowering treatment. Recognising the condition avoids unnecessary treatment for high triglycerides.

The condition is caused by changes in the GK gene on the X chromosome, which makes glycerol kinase, the enzyme that helps the body use glycerol. Males are mainly affected. The complex form is caused by a deletion of part of the X chromosome that also removes neighbouring genes, such as NR0B1, which is needed for adrenal development, and sometimes DMD, which causes Duchenne muscular dystrophy.

The complex form can cause adrenal insufficiency and sometimes muscular dystrophy. Female relatives can have carrier testing, and genetic counselling is recommended to explain the chance of passing the change on.

Onemocnění, které analyzujeme

X-vázaně recesivní

Caused by changes in the GK gene on the X chromosome, which makes glycerol kinase. Males are mainly affected. In the complex form, a deletion of part of the X chromosome also removes nearby genes, such as NR0B1, needed for adrenal development, and in some cases DMD (Duchenne muscular dystrophy).

Příznaky a projevy

The isolated adult form is marked by high blood glycerol and can be mistaken for very high triglycerides (pseudohypertriglyceridaemia), which may be resistant to lipid-lowering treatment. The complex form, caused by a deletion that also removes NR0B1, can cause adrenal insufficiency and sometimes muscular dystrophy.

Co se diagnózou změní

Recognising the condition avoids unnecessary treatment for high triglycerides. Female relatives can have carrier testing, and genetic counselling is recommended.

Analyzované geny

Známé také jako

GKD; glycerol kinase deficiency, X-linked recessive; inborn error of glycerol kinase activity; inborn glycerol kinase activity disorder; rare inborn error of glycerol kinase activity

Zahrnuje 5 příbuzných podtypů ↓
  • chromosome Xp21 deletion syndrome
  • glycerol kinase deficiency, adult form
  • glycerol kinase deficiency, infantile form
  • glycerol kinase deficiency, juvenile form
  • isolated glycerol kinase deficiency
MONDO:0010613OMIM 307030Orphanet 308993MedGen 82803Zdroje: [1][2]

Proč sekvenování celého genomu

This condition is inherited through the X chromosome, so female relatives may be carriers. This report reads the GK gene, and its limitations cover the complex form, which is caused by deletions.

Female relatives can be offered testing

Female relatives can have carrier testing once the family's GK change is known. Males are mainly affected, and genetic counselling explains the chance of passing the change on.

Recognising it avoids unneeded treatment

In the isolated adult form, high blood glycerol can look like very high triglycerides that resist lipid-lowering medicines. The complex form can cause adrenal insufficiency and sometimes muscular dystrophy, so it is worth knowing which form is present.

Omezení

  • The complex form of glycerol kinase deficiency is caused by deletions of part of the X chromosome that remove GK along with neighbouring genes.

Reference

  1. Lamiquiz-Moneo I, Mateo-Gallego R, Fernández-Pardo J, López-Ariño C, Marco-Benedí V, Bea AM et al., 2021. Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score. Atherosclerosis
  2. Achermann JC, Vilain EJ, 2001. NR0B1-Related Adrenal Hypoplasia Congenita. GeneReviews

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