Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
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. The defect is localized one step above 3-ketothiolase, resulting in a urinary metabolite pattern similar to that seen for deficiency of the latter. One patient has progressive neurodegenerative symptoms, whereas the clinical phenotype of the other patient is characterized by psychomotor retardation without loss of developmental milestones. A short-term biochemical response to an isoleucine-restricted diet was observed in both children.
Metabolic Unit, University Children's Hospital, Freiburg, Germany. ensenauer.regina@mayo.edu
Regina
R
Ensenauer
Helmut
H
Niederhoff
Jos P N
JP
Ruiter
Ronald J A
RJ
Wanders
K Otfried
KO
Schwab
Matthias
M
Brandis
Willy
W
Lehnert
D015094:3-Hydroxyacyl CoA Dehydrogenases; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000201:enzymology* / Q000235:genetics* / Q000652:urine; D002648:Child; D005260:Female; D006801:Humans; D007532:Isoleucine / Q000378:metabolism / Q000652:urine; D008297:Male
D007532:Isoleucine; D000429:Alcohol Oxidoreductases; D015094:3-Hydroxyacyl CoA Dehydrogenases; C419903:2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase