Biological disorders without phenotype

Beta-mercaptolactate-cysteine disulfiduria is a rare metabolic disorder affecting the metabolism of sulfur-containing amino acids, leading to the accumulation of abnormal compounds in the urine and potentially associated with kidney issues or other complications.

Carnosinase deficiency is a rare metabolic disorder caused by a deficiency of the carnosinase enzyme, which breaks down carnosine and anserine, leading to their accumulation in urine and blood. This condition may be associated with neurological issues and developmental delays.

Congenital alpha-fetoprotein (AFP) deficiency is a rare condition characterized by abnormally low AFP levels from birth. It may be associated with genetic or liver disorders and can impact the early diagnosis of certain diseases.

Hereditary hyperferritinemia without iron overload is a rare genetic disorder characterized by elevated ferritin levels in the blood without excessive iron accumulation in the body. It is usually associated with genetic mutations affecting ferritin regulation and may lead to cataracts in some cases.

Hereditary persistence of alpha-fetoprotein (AFP) is a benign genetic condition characterized by persistently elevated AFP levels in the blood after birth and throughout life, without any underlying liver disease or malignancy, and is usually asymptomatic.