erythrocyte lactate transporter defect

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erythrocyte lactate transporter defect

An inherited deficiency of lactate transporter (OMIM:245340) that results in an acidic intracellular environment following vigourous exercise, causing muscle degeneration and release of myoglobin and creatine kinase.

Molecular pathology
Caused by defects of SLC16A1, which encodes a proton-coupled transporter that catalyses the movement of monocarboxylates (e.g., lactate and pyruvate) and ketone bodies across the plasma membrane.
References in periodicals archive ?
In this situation you will be entitled to a refund of the additional SDLT charge if your old home is sold within 18 months of the completion of the purchase of your new main residence and you will need to apply for the refund through HMRC.
In the SDLT scheme, the transmission rate can be described as the demodulation rate.
i) SDLT Charge I - SPV purchasing asset from originator.
Many city centre areas with high-value commercial property such as Liverpool are 'disadvantaged' so that property transactions here were completely free of SDLT.
The tax planning tip is to check future land arrangements for potential SDLT disasters, plan ahead and thus be prepared.
The first is that, as SDLT is self-assessed, you must take care to make sure you get it right.
SDLT600 will supercede SDLT320, and will deliver what the company claimed is more than doubled throughput and capacity--more than 30Mbytes/sec and 300Gb per cartridge uncompressed--pushing SDLT back into the performance lead over its only major competitor, LTO.
These were calculated separately for patients with Alzheimer's disease, vascular dementia, and SDLT.
The second edition of the book includes guidance on the many changes that have recently been made to the SDLT process, in particular to completing and filing the SDLT return itself, as well as dealing with the additions to SDLT law, such as HM Revenue & Customs' new powers to combat avoidance.
Last month's Budget increased the rates of SDLT in respect of landlords purchasing residential property in England, Wales and Northern Ireland, on or after April 1, 2016.
As from December 4, a new system of SDLT - stamp duty - applies to residential property which introduces payments on a graduated scale, similar to that seen with payments of income tax, rather than on a flat scale payable on the full purchase price.
This modification includes I/O CCA-level and SDLT assembly level integration and qualification to verify that a SDLT updated with a replaced I/O CCA meets all requirements.