It is also being studied in the related condition alkaptonuria.

Coronary artery disease may develop earlier in people with alkaptonuria.

A 1977 study showed that an ochronotic Egyptian mummy had probably suffered from alkaptonuria.

A urine test (urinalysis) is done to test for alkaptonuria.

Kidney stones and prostate stones may be more common in people with alkaptonuria.

No treatment modality has been unequivocally demonstrated to reduce the complications of alkaptonuria.

He also discovered alkaptonuria, understanding its inheritance.

Blue discoloration may occur with alkaptonuria and rarely with Parkinson's disease.

Homegentisate 1,2 dioxygenase is involved in a type of metabolic diseases, called alkaptonuria.

These three inborn errors, along with alkaptonuria are collectively called Garrod's tetrad.

The main symptoms of alkaptonuria are due to the accumulation of homogentisic acid in tissues.

The condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like hydroquinone.

Alkaptonuria arises in people who have inherited two abnormal HGD genes: one from each parent.

A defect in the HGD gene causes alkaptonuria.

He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria.

His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.

The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria.

The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.

He published The Incidence of Alkaptonuria: a Study in Chemical Individuality in 1902.

The diagnosis of alkaptonuria needs to be suspected before diagnostic testing can be performed using paper chromatography and thin layer chromatography.

In alkaptonuria, plasma levels are 6.6 micrograms/ml on average, and urine levels are on average 3.12 mmol/mmol of creatinine.

A distinctive characteristic of alkaptonuria is that ear wax exposed to air turns red or black (depending on diet) after several hours because of the accumulation of homogentisic acid.

HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by low levels of homogentisate in the blood stream.

When Garrod studied alkaptonuria, a disorder that makes urine quickly turn black due to the presence of gentesate, he noticed that it was prevalent among populations whose parents were closely related.

He performed investigations of salicylic acid as well as research on the effects of mercury; conducted studies on alkaptonuria, liver disease, diseases of the genitourinary system and acute infectious diseases.