BabyScreen+ newborn screening

Gene: HGD

Red List (low evidence)

characteristic "black" urine is apparent from infancy, and so the disorder could be diagnosed in early childhood. However the progressive disease manifestations do not really become prominent until adulthood.

low does nitisinone greatly reduces homogentisic acid levels and if started early will probably prevent the clinical abnormalities from developing, but strictly speaking clinical problems do not start in the first 5 years, so that is why I have marked this as a red gene....

worth discussion

Created: 11 Dec 2022, 5:06 a.m. | Last Modified: 11 Dec 2022, 5:06 a.m.

Panel Version: 0.1272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive arthritis; progressive calcific cardiac valve damage; renal stones

Publications

• PMID: 34344451
• PMID: 12501223
• PMID: 12501223

I don't know

Well established gene-disease association.

Progressive metabolic disorder; however, symptoms generally appear in adulthood.

Treatable: Nitisinone, diet

Created: 7 Dec 2022, 2:44 a.m. | Last Modified: 7 Dec 2022, 2:44 a.m.

Panel Version: 0.1206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkaptonuria MIM#203500