PMID- 10448086
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20041117
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 262
IP  - 1
DP  - 1999 Aug 19
TI  - Lipoamide dehydrogenase deficiency due to a novel mutation in the interface
      domain.
PG  - 163-6
AB  - An infant with a neurodegenerative disorder accompanied by lactic acidemia is
      described. In muscle homogenate, the activity of lipoamide dehydrogenase (LAD),
      the third catalytic subunit of pyruvate dehydrogenase complex (PDHc),
      alpha-ketoglutarate dehydrogenase complex (KGDHc), and branched-chain keto acid
      dehydrogenase complex was reduced to 15% of the control. The activity of PDHc was
      undetectable and the activity of KGDHc was 2% of the control mean. The
      immunoreactive LAD protein was reduced to about 10% of the control. Direct
      sequencing of LAD cDNA revealed only one mutation, substituting Asp for Val at
      position 479 of the precursor form. The mutation resides within the interface
      domain and likely perturbs stable dimerization. The phenotypic heterogeneity in
      LAD deficiency is not directly correlated with the residual LAD activity but
      rather with its impact on the multienzymatic complex activity.
CI  - Copyright 1999 Academic Press.
FAU - Shany, E
AU  - Shany E
AD  - Neonatology and Pediatric Departments, Soroka Medical Center, Beer-Sheva, Israel.
FAU - Saada, A
AU  - Saada A
FAU - Landau, D
AU  - Landau D
FAU - Shaag, A
AU  - Shaag A
FAU - Hershkovitz, E
AU  - Hershkovitz E
FAU - Elpeleg, O N
AU  - Elpeleg ON
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Enzyme Precursors)
RN  - 0 (Pyruvate Dehydrogenase Complex)
RN  - EC 1.2.4.2 (Ketoglutarate Dehydrogenase Complex)
RN  - EC 1.8.1.4 (Dihydrolipoamide Dehydrogenase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Dihydrolipoamide Dehydrogenase/*chemistry/*deficiency/genetics/metabolism
MH  - Dimerization
MH  - Enzyme Precursors/chemistry/genetics/metabolism
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Ketoglutarate Dehydrogenase Complex/chemistry/deficiency/genetics/metabolism
MH  - Lymphocytes/enzymology
MH  - Male
MH  - Mitochondria, Muscle/enzymology
MH  - Molecular Sequence Data
MH  - Muscles/enzymology/pathology
MH  - *Mutation
MH  - Neurodegenerative Diseases/enzymology/genetics/pathology
MH  - Phenotype
MH  - Protein Structure, Secondary
MH  - Pyruvate Dehydrogenase Complex/chemistry/genetics/metabolism
MH  - Pyruvate Dehydrogenase Complex Deficiency Disease/enzymology/genetics/pathology
EDAT- 1999/08/17 00:00
MHDA- 1999/08/17 00:01
CRDT- 1999/08/17 00:00
PHST- 1999/08/17 00:00 [pubmed]
PHST- 1999/08/17 00:01 [medline]
PHST- 1999/08/17 00:00 [entrez]
AID - 10.1006/bbrc.1999.1133 [doi]
AID - S0006-291X(99)91133-6 [pii]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Aug 19;262(1):163-6. doi:
      10.1006/bbrc.1999.1133.