Conditions / Skin
isolated hyperchlorhidrosis
info · Skin
A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
Signs and symptoms
- Failure to thrive
- Feeding difficulties
- Elevated sweat chloride
- Hypernatremic dehydration
- Hyperkalemia
- Hyponatremia
Also known as: HYCHL; carbonic anhydrase XII deficiency