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What is MCT8 deficiency?

What is MCT8 deficiency?

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe intellectual disability, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities.

What is MCT8 gene?

The SLC16A2 gene (also known as MCT8) provides instructions for making a protein that plays a critical role in nervous system development. This protein transports a particular hormone into nerve cells in the developing brain.

What does MCT8 do?

Friesema et al identified MCT8 (monocarboxylate transporter 8) as a specific thyroid hormone transporter using functional studies in Xenopus oocytes. Tissue distribution studies using MCT8-specific antibodies found the protein to be expressed in kidney, brain, liver, and heart.

Can hypothyroidism cause Myxoedema?

Myxedema is a result of undiagnosed or untreated severe hypothyroidism. It can also develop when someone stops taking their thyroid medication. It’s more common in the elderly and women. Deposits of chains of sugar molecules in the skin cause the skin condition myxedema.

What are the causes of cretinism?

Cretinism is a disease caused by hypothyroidism. Iodine deficiency in diet during pregnancy is the major cause of cretinism. Hypothyroidism leads to impaired development of the growing fetus and leads to mental retardation and stunted growth.

What is the difference between MCT oil and C8 MCT oil?

The short answer is that regular MCT oil contains three medium-chain fatty acids (C8, C10, C12) at varying concentrations, while C8 MCT oil is at least 98% – 100% pure caprylic acid, also know as C8.

How common is Opitz Kaveggia syndrome?

The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders.

What are the 5 thyroid hormones?

Thyroid hormones are derivatives of the the amino acid tyrosine bound covalently to iodine. The two principal thyroid hormones are: thyroxine (also known as T4 or L-3,5,3′,5′-tetraiodothyronine) triiodothyronine (T3 or L-3,5,3′-triiodothyronine)

How is cretinism diagnosed?

Usually a technetium (Tc-99m pertechnetate) thyroid scan is performed to detect a structurally abnormal gland. A radioactive iodine (RAIU) scan will help differentiate congenital absence of gland or a defect in organification (a process necessary to make thyroid hormone).

Does MCT oil bypass the liver?

When you eat these medium-chain fats, they bypass your gut and go straight to your liver. If you’re following a low-carbohydrate or ketogenic diet, MCTs can be converted by the liver into ketones.

What mutation causes Opitz-Kaveggia?

A number sign (#) is used with this entry because of evidence that the Opitz-Kaveggia syndrome, also known as FG syndrome-1 (FGS1), is caused by mutation in the MED12 gene (300188) on chromosome Xq13.

What level is severe hypothyroidism?

Some suggest that TSH levels of over 2.5 milliunits per liter (mU/L) are abnormal, while others consider levels of TSH to be too high only after they have reached 4 to 5 mU/L. Both children and teenagers as well as older people have somewhat higher TSH levels than middle-aged people.