Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.3.1.21 (CPT)
 4,580 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Until specific CPT and ICD-9 codes are created and approved for CVS, and until there is uniform agreement that CVS is a true medical anomaly (or not), each practitioner will have to decide on how to bill for the signs and symptoms of Computer Vision Syndrome. If the practitioner chooses to view CVS as a medical problem, then the same guidelines and rules for all other patients should be followed with appropriate documentation using CPT and ICD-9 coding. If the practitioner chooses to consider CVS solely as an optical problem, this is a "noncovered" service and the patient or any applicable optical plan will be responsible for payment. One final note: each practitioner who tests for CVS will also have to determine if there is a separate fee for CVS testing. If the practitioner considers CVS to be a medical problem, it may be applicable to include testing for Computer Vision Syndrome as an incidental test to the medical office visit. If the practitioner chooses to consider CVS to be purely an optical problem, it may be appropriate to add an appropriate charge to the noncovered examination. Whatever the decision is, there must be consistency from patient to patient.
 ...
PMID:Do third-party plans really pay for CVS care? 1236 94

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had elevated bloodspot long-chain acylcarnitines consistent with either CACT or carnitine palmitoyltransferase II (CPT2) deficiency; the latter was excluded by demonstrating normal CPT2 activity in fibroblasts. Direct sequencing of all SLC25A20 (CACT) gene exons and exon-intron boundaries revealed that Patient 1 was compound heterozygous for a novel c.609-3c>g (IVS6-3c>g) mutation on the paternal allele and a previously described c.326delG mutation on the maternal allele. Patient 2 was homozygous for the same, novel c.609-3c>g mutation. Previously reported SLC25A20 mutations have been almost exclusively confined to a single family or ethnic group. Analysis of fibroblast cDNA by RT-PCR, agarose gel electrophoresis and sequencing of extracted bands showed that both mutations produce aberrant splicing. c.609-3C>G results in exon 7 skipping leading to a frameshift with premature termination seven amino acids downstream. c.326delG was confirmed to produce skipping of exons 3 or 3 plus 4. CACT activity in both patients' fibroblasts was near-zero. For both families, prenatal diagnosis of an unaffected fetus was performed by mutation analysis on CVS tissue in a subsequent pregnancy. Due to the urgency of prenatal diagnosis in the second family, molecular diagnosis was performed prior to demonstration of CACT enzyme deficiency, illustrating that mutation analysis is a rapid and reliable approach to first-line diagnosis of CACT deficiency.
 ...
PMID:A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 1691 90