Glycerol kinase deficiency

from Wikipedia, the free encyclopedia
Classification according to ICD-10
E 74.8 Other specified disorders of carbohydrate metabolism
ICD-10 online (WHO version 2019)

The glycerol kinase deficiency is an inborn error of glycerol metabolism and its clinical manifestation.

Synonyms are: hyperglycerinemia , hyperglycerolaemia , ATP-glycerol-3-phosphotransferase deficiency

The first description was in 1977 by ERB McCabe and colleagues.

to form

The following forms can be distinguished:

  • Glycerol kinase deficiency, more isolated
  • Glycerol kinase deficiency, more infantile
  • Glycerol kinase deficiency, juvenile
  • Glycerol kinase deficiency, adult

Isolated glycerol kinase deficiency

The frequency is unknown; inheritance is X-linked - recessive .

The disease is based on mutations in the GK gene at location Xp21.2.

Clinical criteria are:

Sometimes there is a combination with progressive muscular dystrophy and congenital adrenal hypoplasia.

Investigation methods

Free glycerine can be detected in increased amounts in urine and blood serum .

diagnosis

The diagnosis can be made prenatally.

Differential diagnosis

The Snyder-Robinson syndrome is to be distinguished .

literature

  • Sevim U, Fatma D., Ihsan E., Gulay C., Nevin B.: A neonate with contiguous deletion syndrome in XP21. In: Journal of Pediatric Endocrinology & Metabolism: JPEM. Vol. 24, No. 11-12, 2011, ISSN  0334-018X , pp. 1095-1098, PMID 22308874 .
  • B. Wikiera, A. Jakubiak, J. Zimowski, A. Noczyńska, R. Smigiel: Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion ). In: Pediatric Endocrinology, Diabetes, and Metabolism. Vol. 18, No. 4, 2012, ISSN  2081-237X , pp. 153-157, PMID 23739620 . (Review).
  • E. García García, AJ Martínez Ortega, R. Fernández García, M. Madruga Garrido: Hipoplasia suprarrenal congénita como forma de presentación de un síndrome de deleción Xp21. In: Medicina clínica. Vol. 140, No. 12, June 2013, ISSN  0025-7753 , pp. 564-565, doi: 10.1016 / j.medcli.2012.09.021 , PMID 23177307 .
  • A. Wirth, CC Heuck, W. Bieger, G. Schlierf: Pseudo-hypertriglyceridaemia in the case of glycerokinase deficiency. In: German Medical Weekly. Vol. 110, No. 21, May 1985, ISSN  0012-0472 , pp. 843-847, doi: 10.1055 / s-2008-1068916 , PMID 2986935 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ ER McCabe, PV Fennessey, MA Guggenheim, BS Miles, WW Bullen, DJ Sceats, SI Goodman: Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. In: Biochemical and biophysical research communications. Vol. 78, No. 4, October 1977, ISSN  0006-291X , pp. 1327-1333, PMID 200232 .
  3. ↑ a b Glycerol kinase deficiency, more isolated. In: Orphanet (Rare Disease Database).
  4. ↑ Glycerol kinase deficiency, more infantile. In: Orphanet (Rare Disease Database).
  5. ↑ Glycerol kinase deficiency, juvenile. In: Orphanet (Rare Disease Database).
  6. ↑ Glycerol kinase deficiency, adult. In: Orphanet (Rare Disease Database).
  7. ↑ Glycerol kinase deficiency.  In: Online Mendelian Inheritance in Man . (English)