Molecular analysis of the MUT gene in Filipino patients with methylmalonic acidemia / (Record no. 3009)

000 -LEADER
fixed length control field 02231nam a22002417a 4500
003 - CONTROL NUMBER IDENTIFIER
control field DOH
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20210220125841.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 210220b ||||| |||| 00| 0 eng d
245 00 - TITLE STATEMENT
Title Molecular analysis of the MUT gene in Filipino patients with methylmalonic acidemia /
Statement of responsibility, etc. Catherine Lynn T. Sila [and six others]
520 3# - SUMMARY, ETC.
Summary, etc. INTRODUCTION: Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism resulting from defects in the nuclear encoded mitochondrial enzyme methylmalonyl-CoA mutase. This study characterizes for the first time the genotype of Filipino patients with MMA.<br/><br/>METHODS: Clinical data were collected from 3 patients diagnosed with MMA at the Department of Pediatrics of the Philippine General Hospital from January 2002 to June 2008. The diagnosis was confirmed by urine organic acid analysis using gas chromatography - mass spectrometry (GC-MS). Molecular analysis of the MUT gene was subsequently performed using DNA from dried blood spots or peripheral blood of patients, PCR amplification and direct sequence analysis.<br/>RESULTS: The patients presented classically with progressive encephalopathy, metabolic acidosis and secondary hyperammonemia in the early neonatal period. Urine amino and organic acid screens showed increased glycine, methylmalonic acid and other secondary metabolites for methylmalonic aciduria. Mutations detected in the MUT gene analysis [c.1595G>A (p.R532H), c.2011G>A (p.V671I), c.322C>T (p.R108C), c.982C>T (p.L328F) and c.1280G>A (p.G427D)] were compound heterozygous in all patients.<br/><br/>CONCLUSION: Our results show the genetic heterogeneity in Filipino MMA patients and helped emphasize the importance of molecular diagnosis particularly in the genetic counseling of the patients and their families.
580 ## - LINKING ENTRY COMPLEXITY NOTE
Linking entry complexity note In: Acta Medica Philippina, 2009 vol 43 (1) pages: 29-32
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Methylmalonic Acid
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Metabolism, Inborn Errors
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silao, Catherine Lynn T.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hernandez, Karen N.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Canson, Daffodil M.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Estrada, Sylvia C.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiong, Mary Anne D.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cutiongco-de la Paz, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name David-Padilla, Carmencita
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Journal Article
999 ## -
-- 3009
-- 3009
Holdings
Withdrawn status Lost status Source of classification or shelving scheme Damaged status Not for loan Home library Current library Shelving location Date acquired Total Checkouts Full call number Barcode Date last seen Price effective from Koha item type
    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/20/2021   J000093 D0001J000093 02/20/2021 02/20/2021 Journal Article