Sentence examples for enzyme defect from inspiring English sources

Seven of these women were found to have some degree of androgen insensitivity, and one an enzyme defect.

In 1948 methemoglobinuria became the first human genetic disease to be identified as being caused by an enzyme defect.

A metabolic disorder that dramatically affects the skin is porphyria, an enzyme defect that causes hemoglobin precursors, or porphyrins, to accumulate in the skin.

The most common form, porphyria cutanea tarda, is usually caused by a combination of a hereditary enzyme defect and chronic alcoholism.

One subset of the ichthyoses, a group of sometimes disabling genetic skin disorders, may thus be delineated from other members of the group, based on biochemical detection of a specific enzyme defect (reduced steroid sulfatase enzyme).

The enzyme defect leads to progressive accumulation of glycosphingolipids (GL) in all kinds of cells, tissues, organs, and body fluids.

Andersen's disease is transmitted as an autosomal-recessive trait, as are most similar enzyme defects.

Many patients with enzyme defects in the heme biosynthetic pathway remain asymptomatic, which is unusual for inborn errors of metabolism.

Biochemical pathways of amino acid, carbohydrate, or fatty acid metabolism may be affected, each having a number of possible enzyme defects.

Women with diabetes (fasting plasma glucose≥7.0 mmol/l), hypertension, elevated liver enzyme levels, adrenal enzyme defects, hyperprolactinemia, and hypothyroidism were excluded from the study.

These cells neither showed respiratory chain enzyme defects nor decreased steady-state levels of OXPHOS complexes, but displayed differentially-delayed assembly rates of respiratory chain complexes I, III, and IV amongst mutants belonging to different mtDNA haplogroups.