Atypical HSD10 deficiency

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
G25.5	Other chorea
ICD-10 online (WHO version 2019)

The Atypical HSD10 deficiency is a very rare congenital special form of HSD10 deficiency and the syndromic non-X-linked mental retardation scoring disease with the main features of mental retardation , choreoathetosis and abnormal behavior.

Synonyms are: HSD10 deficiency, atypical form; Mental retardation, X-linked, syndromic, type 10; X-linked syndromic intellectual disability type 10; English X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; Mental retardation, X-linked, syndromic 10; MRXS10

It was first described in 1999 by the Belgian human geneticist Edwin Reyniers and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far a family with 5 affected people has been described. The inheritance is X-linked - recessive .

root cause

Of the disease are mutations in HSD17B10 - gene on the X chromosome locus p11.22 based on encoding the L-3-hydroxyacyl-CoA dehydrogenase II.

Clinical manifestations

Clinical criteria are:

• Mild mental retardation
• Choreoathetosis
• Behavioral problems such as aggressiveness , agitation , hallucinations and self-harm .

literature

• T. Fukao, K. Akiba, M. Goto, N. Kuwayama, M. Morita, T. Hori, Y. Aoyama, R. Venkatesan, R. Wierenga, Y. Moriyama, T. Hashimoto, N. Usuda, K. Murayama, A. Ohtake, Y. Hasegawa, Y. Shigematsu, Y. Hasegawa: The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation. In: Journal of human genetics. Vol. 59, No. 11, November 2014, pp. 609-614, doi: 10.1038 / jhg.2014.79 , PMID 25231369 .

Individual evidence

1. ↑ ^{a b c} HSD10 deficiency, atypical form. In: Orphanet (Rare Disease Database).
2. ^ E. Reyniers, P. Van Bogaert, N. Peeters, L. Vits, F. Pauly, E. Fransen, N. Van Regemorter, RF Kooy: A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. In: American Journal of Human Genetics . Vol. 65, No. 5, November 1999, pp. 1406-1412, doi: 10.1086 / 302638 , PMID 10521307 , PMC 1288294 (free full text).
3. ↑ HSD10 mitochondrial disease.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !