Citrullinemia type 1 (also known as classic citrullinemia) is the most severe form and usually becomes evident in the first few days of life. Citrullinemia type 2 appears later in childhood or during adulthood.

Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. [1] Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes.

2023年4月21日 · Citrullinemia type I (CTLN1) is a rare autosomal recessive genetic disorder that includes a neonatal acute (classic) form, a milder late-onset form, a form that begins during or after pregnancy and an asymptomatic form.

2004年7月7日 · Citrullinemia type I (CTLN1) presents as a spectrum that includes a neonatal acute form (the "classic" form), a milder late-onset form (the "non-classic" form), a form in which women have onset of symptoms at pregnancy or post partum, and a form without symptoms or hyperammonemia.

Citrullinemia type 1 is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Symptoms usually begin shorlty after birth and include excessive sleepiness, poor appetite, vomiting, and irritability.

Citrullinemia is a rare genetic disorder characterized by the accumulation of ammonia and other toxic substances in the blood. This condition arises due to a deficiency of the enzyme argininosuccinate synthetase, which plays a crucial role in the urea cycle.

Citrullinemia, type I is an autosomal recessive condition. Babies inherit it when each parent passes down a nonworking ASS1 gene to their baby. Only babies with two nonworking ASS1 genes—one from the mom and one from the dad—have this condition.

Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma.

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia.

1995年3月30日 · Citrullinemia is a term for two different inherited defects of the urea cycle: deficiency of the enzyme argininosuccinate synthetase (classic citrullinemia, citrullinemia type 1, or CTLN1) or of the deficient amino acid transporter citrin (citrullinemia type 2 or CTLN2).