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.
Ensenauer
Regina
R
Metabolic Unit, University Children's Hospital, Freiburg, Germany. ensenauer.regina@mayo.edu
Niederhoff
Helmut
H
Ruiter
Jos P N
JP
Wanders
Ronald J A
RJ
Schwab
K Otfried
KO
Brandis
Matthias
M
Lehnert
Willy
W
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