GRACILE syndrome

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Classification according to ICD-10
E72.9 Disorder of amino acid metabolism, unspecified
E83.1 Iron metabolism disorders
G31.81 Mitochondrial cytopathy
ICD-10 online (WHO version 2019)

The GRACILE syndrome is a very rare congenital disease with the acronym listed key features: GR owth restriction ( prenatal growth retardation ), A minoazidurie , C holestase , I ron overload ( iron overload ), L aktatazidose and E arly death (early decease).

Synonyms are: growth retardation - aminoaciduria - cholestasis - iron overload - lactic acidosis - premature death; Fellman Syndrome; English Finnish Lethal Neonatal Metabolic Syndrome (FLNMS); Lactic Acidosis, Finnish, with Hepatic Hemosiderosis

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . The syndrome is homozygous in Finland, with a prevalence of 1 in 50,000.

root cause

Of the disease are mutations in BCS1L - gene in the chromosome 2 gene locus q35 based encoding a protein of the mitochondrial respiratory chain is essential in the construction of complex III.

Clinical manifestations

Clinical criteria are:

diagnosis

Significant aminoaciduria, increased ferritin levels in the blood plasma , decreased transferrin concentrations and iron accumulation in the liver lead to the suspected diagnosis.

Differential diagnosis

Other mitochondrial hepatopathies such as Pearson's disease as well as mitochondrial fatty acid oxidation disorders and defects in the citric acid cycle must be distinguished .

history

The first description was in 1998 by the Finnish pediatrician Vineta Fellman and colleagues.

In 2002 the acronym was proposed by the same working group.

literature

  • Ç. S. Kasapkara, L. Tümer, FS Ezgü, A. Küçükçongar, A. Hasanoğlu: BCS1L gene mutation causing GRACILE syndrome: case report. In: Renal failure. Vol. 36, No. 6, July 2014, pp. 953-954, doi: 10.3109 / 0886022X.2014.900422 , PMID 24655110 .
  • I. Visapää, V. Fellman, J. Vesa, A. Dasvarma, JL Hutton, V. Kumar, GS Payne, M. Makarow, R. Van Coster, RW Taylor, DM Turnbull, A. Suomalainen, L. Peltonen: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. In: American Journal of Human Genetics . Vol. 71, No. 4, October 2002, pp. 863-876, doi: 10.1086 / 342773 , PMID 12215968 , PMC 378542 (free full text).

Individual evidence

  1. ↑ a b c d GRACILE syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ GRACILE syndrome.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ V. Fellman, J. Rapola, H. Pihko, T. Varilo, KO Raivio: Iron overload disease in infants Involving fetal growth retardation, lactic acidosis, liver Hemosiderosis, and aminoaciduria. In: The Lancet (London, England). Vol. 351, No. 9101, February 1998, pp. 490-493, doi: 10.1016 / S0140-6736 (97) 09272-6 , PMID 9482441 .
  4. ↑ J. Rapola, P. Heikkilä, V. Fellman: Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). In: Pediatric pathology & molecular medicine. Vol. 21, No. 2, 2002 Mar-Apr, pp. 183-193, doi: 10.1080 / 15227950252852087 , PMID 11942535 .

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