Gene: [13q32/PCCA] propionyl-CoA carboxylase, alpha polypeptide; glycinemia ketotic I (propionicacidemia I);
FUN | [1]
Systematic name: propanoyl-CoA:carbon dioxide ligase (ADP-forming).
[2]-The catalyzed reaction: ATP + propanoyl-CoA + HCO(3-) = ADP + orthophosphate + (S)-methylmalonyl-CoA." |
MOP | Active propionyl-CoA carboxylase (abiotin-dependent mitochondrial enzyme)is a heterotetramer consisting of alpha (MM 75 kD; 2.9 kb mRNA) and beta (MM 60 kD; 4.5 and 2 kb mRNA) peptides." |
FAG | The gene for beta subunit of propionyl-CoA carboxylase is mapped to chr 3q: GEM:03q2/PCCB." |
PAT | [1] The main defect is
the deficient propionate carboxylation (due to propionyl-CoA carboxylase
defect). Generalized disturbance of amino acid utilization occurs, that
leads to excessive deaminization of some amino acids in muscles with the
consequent hyperammonemia and ketoacidosis. [2] The main symptoms are: periodic vomiting, hypersomnia, protein intolerance, arrest of development, ketosis, neutropenia, hypogammaglobulinemia, periodic thrombocytopenia." |
HET | [1] Glycinemia and glycinuria are cardinal symptoms in several
genetically independent hereditary metabolic defects. Only two of them,
those related with this propionyl-CoA carboxylase, are mapped (glycinemia
II is determined by beta subunit defect; see GEM:03q2/PCCB). [2] The remaining types are not yet specified enough: iminoglycinuria II (MIM:242600, recessive) and I (MIM:138500, dominant formally, but MIM considers it rather as the heterozygous manifestation of type II), as well as all types of nonketotic hyperglycinemia (isolated, i.e. without ketoacidosis, leucopenia, and thrombocytopenia). The genes for the nonketotic hyperglycinemia types are identified: GEM:09p2/GCSP (MIM 238300), GEM:03p21/GCST (MIM:238310), GEM:00.0/GCSH (MIM:238330), and GEM:00.0/GCSL (MIM:238331). [2] Ketoacidosis with vomiting, as well as neutropenia and thrombocytopenia are not characteristic for isolated (nonketotic) hyperglycinemia. Glycin is the only amino acid which serum and urine levels are elevated." |
HIS | The glycinemic syndrome was first described Childs et al. in 1961. |
PRO | Gene-specific DNA probe pPCC9-5 is a 2.0 kb fragment cloned at BamHI site in the plasmid pCD ( Scambler-1986; Hay-1986)." |
POL | Enzyme Alleles in kb/(Popul Freq) Reference; Probe number
[1] HindIII A1= 4.4/(0.25); A2= 4.2/(0.75) Lamhonwah-1986; Probe 1 [2] XmnI B1= 13.0/(0.61); B2= 9.5/(0.39) Bowcock-1989; Probe 1" |
REF | MAG,POL "Bowcock &: CCG, 51, (HGM10), 966-967, 1989 HIS "Childs &: Pediatrics, 27, 522-538, 1961 PND,MGC "Gompertz &: Clin Genet, 8, 244-250, 1975 MOP "Kalousek &: JBC, 285, 60-65, 1980 EXP,PAT "Lamhonwah AM &: AJHG, 41, 1124-1131, 1987 PRO,SEQ,LOC,POL "Lamhonwah AM &: PNAS, 83, N13, 4864-4868, 1986 PHE "Steinman &: Dev Med Child Neurol, 25, 87-94, 1983 REV,MEB,PHE "Wolf &: AJHG, 34, 699-716, 1982 |
SWI | SWISSPROT: P05165 |
KEY | mtbd, mito, aac |
CLA | coding, basic |
LOC | 13 q32 |
MIM | MIM: 232000 |
EZN | ENZYME: 6.4.1.3 |
