TY - JOUR
T1 - 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
AU - Perez-Cerda, Celia
AU - García-Villoria, Judit
AU - Ofman, Rob
AU - Sala, Pedro Ruiz
AU - Merinero, Begoña
AU - Ramos, Julio
AU - García-Silva, Maria Teresa
AU - Beseler, Beatriz
AU - Dalmau, Jaime
AU - Wanders, Ronald J. A.
AU - Ugarte, Magdalena
AU - Ribes, Antonia
PY - 2005
Y1 - 2005
N2 - We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism. Two of them are males with severe lactic acidosis suggestive of a mitochondrial encephalopathy, and the third is a female who was less severely affected, suggesting skewed X-inactivation. Molecular studies revealed a new missense mutation, 740A-->G, in one family and a previously described mutation, 388C-->T, in the other, causing the amino acid substitutions N247S and R130C, respectively. Both male patients died, one of them despite treatment with an isoleucine-restricted diet, but the disease has remained stable in the female patient after 1 y of treatment
AB - We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism. Two of them are males with severe lactic acidosis suggestive of a mitochondrial encephalopathy, and the third is a female who was less severely affected, suggesting skewed X-inactivation. Molecular studies revealed a new missense mutation, 740A-->G, in one family and a previously described mutation, 388C-->T, in the other, causing the amino acid substitutions N247S and R130C, respectively. Both male patients died, one of them despite treatment with an isoleucine-restricted diet, but the disease has remained stable in the female patient after 1 y of treatment
U2 - https://doi.org/10.1203/01.pdr.0000176916.94328.cd
DO - https://doi.org/10.1203/01.pdr.0000176916.94328.cd
M3 - Article
C2 - 16148061
SN - 0031-3998
VL - 58
SP - 488
EP - 491
JO - Pediatric Research
JF - Pediatric Research
IS - 3
ER -