The normal HGD enzyme is a hexamer (it has six subunits) that are organized in two groups of three (two trimers) and contains an iron atom. Different mutations may affect the structure, function, or solubility of the enzyme. Very occasionally, the disease appears to be transmitted in an autosomal-dominant fashion, where a single abnormal copy of HGD from a single parent is associated with alkaptonuria;  other mechanisms or defects in other genes possibly are responsible in those cases. The HGD enzyme is involved in the metabolism (chemical processing) of the aromatic amino acids phenylalanine and tyrosine. Normally, these enter the bloodstream through protein-containing food and the natural turnover of protein in the body. Tyrosine is specifically required for a number of functions, such as hormones (e.g. thyroxine, the thyroid hormone), melanin (the dark pigment in the skin and hair), and certain proteins, but the vast majority (over 95%) is unused and is metabolized through a group of enzymes that eventually generate acetoacetate and malate. In alkaptonuria, the HGD enzyme cannot metabolize the homogentisic acid (generated from tyrosine) into 4-maleylacetoacetate, and homogentisic acid levels in the blood are 100-fold higher than would normally be expected, despite the fact that a substantial amount is eliminated into the urine by the kidneys.The homogentisic acid is converted to the related substance benzoquinone acetic acid  which forms polymers that resemble the skin pigment melanin. These are deposited in the collagen, a connective tissue protein, of particular tissues such as cartilage.
In the case of scuba and surface supplied divers, the diver breathes gas at ambient pressure, and if this is not able to escape freely during ascent, the pressure difference will cause it to expand, and may rupture the lung tissues (pulmonary barotrauma), and escape to a variety of places, one of which can be the mediastinum. A diver with symptoms of mediastinal emphysema may also have any combination of arterial gas embolism, pneumothorax and subcutaneous or pulmonary interstitial emphysema. Factors which may prevent free escape of the compressed breathing gas include holding the breath or respiratory obstructions such as cysts, mucus plugs, or scar tissue.In rare cases, pneumomediastinum may also arise as a result of blunt chest trauma (e.g. car accidents, fights, over pressure of breathing apparatus), while still evolving in the same fashion as the spontaneous form.Pneumomediastinum is most commonly seen in otherwise healthy young male patients and may not be prefaced by a relevant medical history of similar ailments. Diagnosis
Pneumomediastinum is uncommon and occurs when air leaks into the mediastinum. The diagnosis can be confirmed via chest X-ray showing a radiolucent outline around the heart and mediastinum or via CT scanning of the thorax. Treatment
The tissues in the mediastinum will slowly resorb the air in the cavity so most pneumomediastinums are treated conservatively. Breathing high flow oxygen will increase the absorption of the air. If the air is under pressure and compressing the heart, a needle may be inserted into the cavity, releasing the air.