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Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.

Deleting TNFα gene reduces skin cancer risk in certain mice.

CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.

Cysteine strengthens hair, and glutamine fuels hair growth.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.

Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.

Altering SSAT affects fat metabolism and body fat in mice.

Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and budesonide, which improved after stopping the medications.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

Lack of functional CYLD in mice leads to early aging and cancer.