Add to ORKGWe report a patient presenting with developmental delay, Leigh-like abnormalities on MRI and elevated 3-hydroxyisovaleric acid levels. Upon whole-exome sequencing, he was diagnosed with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh-like disease and/or organic aciduria. © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the li...
A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a ca...
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, re...
HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency (MIM #250620) is a rare autosomal recessive inb...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterize...
Background: Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a ...
3-Hydroxyisobutyryl-CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associ...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, lea...
Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valin...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the li...
3-Hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency is a rare disorder of valine metabolism. We pres...
International audienceParoxysmal dyskinesias (PD) are rare movement disorders characterized by recur...
3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino ac...
The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hy...
BACKGROUND: Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the li...
A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a ca...
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, re...
HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency (MIM #250620) is a rare autosomal recessive inb...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterize...
Background: Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a ...
3-Hydroxyisobutyryl-CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associ...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, lea...
Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valin...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the li...
3-Hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency is a rare disorder of valine metabolism. We pres...
International audienceParoxysmal dyskinesias (PD) are rare movement disorders characterized by recur...
3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino ac...
The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hy...
BACKGROUND: Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the li...
A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a ca...
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, re...