肝・間葉系幹細胞

幹細胞と肝細胞が同じ発音で説明する時にむずかしい。英語で言うしかないのか。「みき細胞」と「きも細胞」と言うべきか。

Hep2001 メチルマロン酸血症(MMA)のレシピエント肝由来の肝細胞と線維芽細胞
Hep2002 CPS1欠損症のレシピエント肝由来の肝細胞と線維芽細胞

有機酸代謝異常症(メチルマロン酸血症・プロピオン酸血症)、尿素サイクル異常症（CPS1,OTC欠損症）

CDK4、Cyclin D1、hTERT

ムコ多糖症VII型マウス (B6/MPSVII マウス):　どういう（科学的）理由で、リソソーム病に対して生体肝移植が行われないのであろうか。骨髄移植に比較すると（肝細胞移植は）細胞数の問題があるだろう。

MMA: What is methylmalonic acidemia?

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants experience vomiting, dehydration, weak muscle tone (hypotonia), excessive tiredness (lethargy), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.
How common is methylmalonic acidemia?

This condition occurs in an estimated 1 in 50,000 to 100,000 people.
What genes are related to methylmalonic acidemia?

Mutations in the MMAA, MMAB, and MUT genes cause methylmalonic acidemia.

CPSID: What is carbamoyl phosphate synthetase I deficiency?

Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Carbamoyl phosphate synthetase I deficiency often becomes evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of carbamoyl phosphate synthetase I deficiency may include developmental delay and intellectual disability.

In some affected individuals, signs and symptoms of carbamoyl phosphate synthetase I deficiency may be less severe, and may not appear until later in life.
How common is carbamoyl phosphate synthetase I deficiency?

Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country.
What genes are related to carbamoyl phosphate synthetase I deficiency?

Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.