RT Book, Section
A1 Marsden, Deborah
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102703470
T1 The Organic Acidemias
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102703470
RD 2024/04/19
AB Disease  summary:Organic  acidemias  are  disorders  of  intermediary  metabolism  of  one  or  more  amino  acid  constituents  of  protein,  due  to  a  deficiency  of  an  enzyme  in  the  respective  catabolic  pathway,  or  an  essential  enzyme  cofactor.The  accumulation  of  the  toxic  intermediates  (organic  acids)  can  result  in  life-threatening  organ  damage,  primarily  of  the  brain,  liver,  and  kidneys.There  is  a  phenotypic  spectrum,  ranging  from  severe  neonatal  presentation  to  later  onset  of  milder  symptoms  in  childhood  or  adulthood.  Clinical  phenotype  depends  largely  on  the  amount  of  residual  enzyme  activity,  determined  by  the  mutations.Hereditary  basis:Autosomal  recessiveDifferential  diagnosis:SepsisDrug  or  chemical  intoxicationMitochondrial  disease