Costeff Syndrome

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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 Costeff syndrome or 3-methylglutaconaciduria type 3 is a very rare congenital metabolic disorder belonging to the 3-methylglutaconaciduria with the main features of optic atrophy and choreoathetosis with increased excretion of 3-methylglutaconic acid and 3-methylglutaric acid in the urine .

Synonyms are: MGA 3; Optic atrophy, autosomal recessive, type 3; Optic atrophy, infantile, with chorea and spastic paraplegia; Optic atrophy syndrome Costeff type; Optic atrophy plus syndrome

The first description comes from 1989 by the Israeli neuropaediatrist H. Costeff and colleagues.

distribution

The frequency is given as 1 in 10,000 in the Iraqi - Jewish population, inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the OPA3 gene in chromosome 19 at locus q13.32. The same gene is also affected in the autosomal dominant optic atrophy OPA3.

Clinical manifestations

Clinical criteria are:

  • Onset of the disease as an infant with increasing visual impairment and development of bilateral optic atrophy
  • Choreoathetosis during the first decade of life

In addition, one can spastic paraparesis , ataxia , dysarthria and nystagmus are.

Differential diagnosis

The other forms of 3-methylglutaconaciduria must be differentiated due to the clinical features. Compared to 3-methylglutaconyl aciduria type 1 , 3-hydroxy-isovaleric acid is not increased and the activity of 3-methylglutaconyl-CoA hydratase is normal. In particular, Behr syndrome I and cerebral palsy are to be distinguished .

literature

  • S. Sofer, A. Schweiger, L. Blumkin, G. Yahalom, Y. Anikster, D. Lev, B. Ben-Zeev, T. Lerman-Sagie, S. Hassin-Baer: The neuropsychological profile of patients with 3- methylglutaconic aciduria type III, Costeff syndrome. In: American journal of medical genetics. Part B, Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics. Vol. 168B, No. 3, April 2015, pp. 197-203, doi : 10.1002 / ajmg.b.32296 , PMID 25657044 .
  • G. Yahalom, Y. Anikster, R. Huna-Baron, C. Hoffmann, L. Blumkin, D. Lev, R. Tsabari, Z. Nitsan, SF Lerman, B. Ben-Zeev, B. Pode-Shakked, S. Sofer, A. Schweiger, T. Lerman-Sagie, S. Hassin-Baer: Costeff syndrome: clinical features and natural history. In: Journal of neurology. Vol. 261, No. 12, December 2014, pp. 2275-2282, doi : 10.1007 / s00415-014-7481-x , PMID 25201222 .

Individual evidence

  1. ↑ a b c d 3-methylglutaconic aciduria type 3. In: Orphanet (database for rare diseases).
  2. ↑ H. Costeff, N. Gadoth, N. Apter, M. Prialnic, H. Savir: A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. In: Neurology. Vol. 39, No. 4, April 1989, pp. 595-597, PMID 2494568 .
  3. ↑ 3-methylglutaconic aciduria, type III.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Optic atrophy and cataract, autosomal dominant form. In: Orphanet (Rare Disease Database).
  5. ^ Optic atrophy 3 with cataract.  In: Online Mendelian Inheritance in Man . (English).

Web links