HMG-CoA lyase deficiency

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Classification according to ICD-10
E71.1 Other disorders of the metabolism of branched amino acids
ICD-10 online (WHO version 2019)

The HMG-CoA lyase deficiency is a very rare congenital , autosomal recessive inherited metabolic disorder of leucine -Stoffwechsels having reduced activity of hydroxymethylglutaryl-CoA lyase , and is the classic acidurias counted.

Synonyms are: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; 3HMG; Hydroxymethylglutaric aciduria; English 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

The first description comes from 1976 by Kym F. Faull and colleagues.

distribution

The frequency is given as less than 1 in 100,000 live births, so far fewer than 100 people have been reported, mainly from Saudi Arabia , Spain and Portugal . Inheritance is autosomal - recessive .

root cause

The disease are mutations in HMGCL - gene on chromosome 1 locus p36.11 based on which the hydroxymethylglutaryl-CoA lyase coded.

Clinical manifestations

Clinical criteria are:

diagnosis

Diagnosis is made by chromatography of organic acids in urine and acyl carnitines in blood plasma . A hypoketotic hypoglycemia is considered characteristic. In the magnetic resonance imaging to diffuse signal changes found in the white matter , the thalamus and the basal ganglia .

Differential diagnosis

The following are to be distinguished:

literature

  • O. Yilmaz, S. Kitchen, A. Pinto, A. Daly, A. Gerrard, R. Hoban, S. Santra, S. Sreekantam, K. Frost, A. Pigott, A. MacDonald: Deficiencia de la 3-hidroxi -3-metilglutaril-CoA liasa: un caso clínico y revisión de la literatura .. In: Nutricion hospitalaria. Volume 35, number 1, January 2018, pp. 237-244, doi: 10.20960 / nh.1329 , PMID 29565174 .
  • D. Santosa, MG Donner, S. Vom Dahl, M. Fleisch, T. Hoehn, E. Mayatepek, K. Heldt, T. Niehues, D. Häussinger: Favorable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3 -Methylglutaryl-CoA Lyase Deficiency. In: JIMD Reports. Volume 37, 2017, pp. 1–5, doi : 10.1007 / 8904_2017_7 , PMID 28220407 , PMC 5740040 (free full text).
  • A. Pipitone, DB Raval, J. Duis, H. Vernon, R. Martin, A. Hamosh, D. Valle, M. Gunay-Aygun: The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. In: American journal of medical genetics. Part A. Volume 170, number 6, 06 2016, pp. 1600–1602, doi: 10.1002 / ajmg.a.37620 , PMID 26997609 , PMC 5702463 (free full text).

Individual evidence

  1. ↑ a b c d e 3-Hydroxy-3-methylglutaric aciduria. In: Orphanet (Rare Disease Database).
  2. ↑ KF Faull, PD Bolton, B. Halpern, J. Hammond, DM Danks: The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. In: Clinica Chimica Acta. Volume 73, Number 3, December 1976, pp. 553-559, PMID 1000872 .
  3. ^ Genetics Home Reference
  4. ↑ HMG-CoA lyase deficiency.  In: Online Mendelian Inheritance in Man . (English)

Web links