Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
Koene
Saskia
S
Departments of Pediatrics Dermatology Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Departments of Biochemistry and Molecular Biology Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Kluijtmans
Leo A J
LAJ
Wevers
Ron
R
Mock
Donald
D
Pasch
Marcel
M
Morava
Eva
E
D000015:Abnormalities, Multiple / Q000473:pathology*; D019588:Aging, Premature; D001710:Biotin / Q000627:therapeutic use; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D004475:Ectoderm / Q000002:abnormalities*; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000473:pathology*
C002163:beta-methylcrotonylglycine; D001710:Biotin; D005998:Glycine