Syndromic 10 X-Linked Mental Retardation

associated with hemizygous or heterozygous mutations in the HSD17B10 gene; OMIM: 300438

Also Known As:

Mental Retardation, X-Linked, Syndromic 10; 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency; 17beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency; 2-Methyl-3-Hydroxybutyric Aciduria; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; Chorioathetosis With Mental Retardation And Abnormal Behavior; HSD17B10 Deficiency; Hydroxyacyl-CoA Dehydrogenase II Deficiency; Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; MRXS10; Mental Retardation With Chorioathetosis And Abnormal Behavior

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease)
2.	Syndromic 10 X-Linked Mental Retardation
3.	Cerebral Palsy (Spastic Diplegia)
4.	Brain Diseases (Brain Disorder)

Experts

1.	Wanders, Ronald J A: 3 articles (02/2007 - 05/2002)
2.	Ruiter, Jos P N: 2 articles (04/2004 - 05/2002)
3.	McCarthy, Philomena: 1 article (09/2018)
4.	O'Byrne, James J: 1 article (09/2018)
5.	Pastores, Gregory M: 1 article (09/2018)
6.	Stepien, Karolina M: 1 article (09/2018)
7.	Treacy, Eileen P: 1 article (09/2018)
8.	Engert, Stefanie: 1 article (02/2007)
9.	Hellebrand, Heide: 1 article (02/2007)
10.	Kooy, R Frank: 1 article (02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Syndromic 10 X-Linked Mental Retardation:

1.	Isoleucine (L-Isoleucine)FDA Link 05/01/2002 - "We report the identification of two new 7-year-old patients with 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, a recently described inborn error of isoleucine metabolism. " 01/01/2004 - "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease." 04/01/2004 - "Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases." 09/01/2018 - "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. " 12/01/2000 - "Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism."
2.	EnzymesIBA 03/14/1983 - "(3) This enzyme activity was shown to be absent in fibroblasts from two patients with 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. " 01/01/2003 - "Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency."
3.	Proteins (Proteins, Gene)FDA Link 02/01/2007 - "Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein."
4.	Fatty Acids (Saturated Fatty Acids)IBA 12/01/2000 - "Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism."
5.	Coenzyme A (CoA)IBA 03/14/1983 - "The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria."
6.	AcidsIBA 01/01/2003 - "Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency."
7.	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 01/01/2003 - "Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency."
8.	2-methyl-3-hydroxybutyric acidIBA 09/01/2018 - "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. "