Glycine encephalopathy

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Classification according to ICD-10
E72.5 Glycine metabolism disorders
ICD-10 online (WHO version 2019)

The glycine encephalopathy is a very rare inborn metabolic disorder of amino acid metabolism with accumulation of glycine in the body, leading to symptoms of a neurological metabolic disorder leads.

Synonyms are: hyperglycinemia, non-ketotic; NKA; english Glycine synthase deficiency

The first description comes from 1964 by the Heidelberg pediatricians K. Schreier and W. Müller.

distribution

The inheritance is done autosomal - recessive , the frequency is specified with 1 to 9 to 1 million, or 1 to 55,000 newborns in Finland with 1 to 63,000 in British Columbia .

root cause

The disease is based on various mutations that are responsible for several components of the glycine decarboxylase complex , so that glycine accumulates in the brain , liver , liquor , plasma and urine :

Classification

The following subdivision according to age at the manifestation of the disease is common:

  • neonatal glycine encephalopathy, classic, most common form
  • infantile glycine encephalopathy
  • atypical glycine encephalopathy

Clinical manifestations

Clinical criteria are:

  • neonatal form with onset a few days after birth with hypotonia , lethargy to coma , myoclonus , hiccups , breathing and swallowing disorder, mental retardation and spasticity often lethal courses
  • infantile form with seizures , intellectual disabilities of varying degrees after a symptom-free time interval of up to 6 months
  • atypical form with different courses, for example with transient or late onset hyperglycinemia

Apparently it is a broad spectrum clinically.

diagnosis

Common to all forms is hyperglycinaemia in the blood and liquor . The diagnosis can be made by determining the enzyme activity from a liver biopsy, the 13C-glycine breath test and the human genetic detection of the mutation. In EEG , changes place as suppression bursts and Hypsarrhythmien . Common abnormalities in magnetic resonance imaging are bar deficiency , abnormal gyri, and hypoplasia of the cerebellum in the neonatal form. Delayed myelination and atrophy can also occur.

Differential diagnostics

The following are to be distinguished:

literature

  • A. Radha Rama Devi, L. Lingappa, SM Naushad: Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy. In: Journal of pediatric genetics. Volume 7, number 3, September 2018, pp. 97-102, doi: 10.1055 / s-0038-1667036 , PMID 30105116 , PMC 6087477 (free full text).
  • A. Kurolap, A. Armbruster, T. Hershkovitz, K. Hauf, A. Mory, T. Paperna, E. Hannappel, G. Tal, Y. Nijem, E. Sella, M. Mahajnah, A. Ilivitzki, D. Hershkovitz, N. Ekhilevitch, H. Mandel, V. Eulenburg, HN Baris: Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. In: American Journal of Human Genetics . Volume 99, number 5, November 2016, pp. 1172–1180, doi: 10.1016 / j.ajhg.2016.09.004 , PMID 27773429 , PMC 5097939 (free full text).
  • K. Tada, K. Hayasaka: Non-ketotic hyperglycinaemia: clinical and biochemical aspects. In: European Journal of Pediatrics. Volume 146, Number 3, May 1987, pp. 221-227, PMID 3297708 (review).

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. ↑ a b c d e Glycine encephalopathy. In: Orphanet (Rare Disease Database).
  3. ^ Gene Reviews
  4. ↑ K. Schreier and W. Müller: Idiopathic hyperglycinemia (glycinosis). In: German Medical Weekly . Volume 89, September 1964, pp. 1739-1743, doi: 10.1055 / s-0028-1113191 , PMID 14189786 .
  5. ↑ DA Applegarth, JR Toone, RB Lowry: Incidence of inborn errors of metabolism in British Columbia, 1969-1996. In: Pediatrics. Volume 105, number 1, January 2000, p. E10, PMID 10617747 .
  6. ↑ a b Glycine encephalopathy.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Glycine encephalopathy, neonatal. In: Orphanet (Rare Disease Database).
  8. ↑ Glycine encephalopathy, infantile. In: Orphanet (Rare Disease Database).
  9. ↑ Glycine encephalopathy, atypical. In: Orphanet (Rare Disease Database).
  10. ↑ V. Subramanian, P. Kadiyala, P. Hariharan, E. Neeraj: A rare case of glycine encephalopathy unveiled by valproate therapy. In: Journal of pediatric neurosciences. Volume 10, number 2, 2015 Apr-Jun, pp. 143-145, doi: 10.4103 / 1817-1745.159200 , PMID 26167219 , PMC 4489059 (free full text).

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