Spondylocostal dysostosis associated with methylmalonic aciduria.
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.
Honjo
Rachel S
RS
Instituto da Criança, University of São Paulo, São Paulo, Brazil. rachel.honjo@gmail.com
Casella
Erasmo B
EB
Vieira
Maria A
MA
Bertola
Débora R
DR
Albano
Lilian M J
LM
Oliveira
Luiz A
LA
Nomachi
Shosuke
S
Hanai
Junji
J
Benoist
Jean-François
JF
Ellard
Sian
S
Young
Elizabeth
E
Kim
Chong A
CA
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics*; D002331:Carnitine / Q000008:administration & dosage; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D018389:Codon, Nonsense; D004413:Dysostoses / Q000235:genetics*; D005091:Exons; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000652:urine; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000652:urine; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging / Q000473:pathology; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000008:administration & dosage
D018389:Codon, Nonsense; C497512:MMAA protein, human; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D014805:Vitamin B 12; D002331:Carnitine