Literature summary for 1.1.1.178 extracted from

Garcia-Villoria, J.; Ofman, R.; Sala, P.R.; Merinero, B.; Ramos, J.; Garcia-Silva, M.T.; Beseler, B.; Dalmau, J.; Wanders, R.J.; Ugarte, M.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease (2005), Pediatr. Res., 58, 488-491.

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Protein Variants

Protein Variants	Comment	Organism
L122V	nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency	Homo sapiens
additional information	10 X-linked MHBD deficiency patient phenotypes, overview	Homo sapiens
N274S	nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency	Homo sapiens
R130C	nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
2-methyl-3-hydroxybutyryl-CoA dehydrogenase	-	Homo sapiens
MHBD	-	Homo sapiens

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Release 2023.1 (January 2023)