Description:
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| methylcrotonyl-CoA carboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.4 |
| |
| Remarks |
Clinically affected; product of a twin pregnancy; holocarboxylase synthetase deficient; acidosis; "cat urine" odor; shock; responded well to biotin treatment; mother was given supplemental biotin in the last trimester of pregnancy due to history of two previously affected infants; deficient propionyl CoA carboxylase, pyruvate carboxylase, and B-methylcrotonyl CoA carboxylase |
| Roth KS, Allan L, Yang W, Foreman JW, Dakshinamurti K, Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. Clin Chim Acta109:337-40 1981 |
| PubMed ID: 7226522 |
| |
| Roth KS, Yang W, Foremann JW, Rothman R, Segal S, Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. J Pediatr96:845-9 1980 |
| PubMed ID: 7365583 |
| |
| Roth K, Cohn R, Yandrasitz J, Preti G, Dodd P, Segal S, Beta-methylcrotonic aciduria associated with lactic acidosis The Journal of pediatrics88:229-35 1976 |
| PubMed ID: 1249684 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|