Mitral valve
...62;>> Other less common features of the
alkaptonuria include pigment deposition (aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation), renal stones, and prostate stones. Full article >>> mitral valve prolapse pericarditis ; bacterial ...
Inborn errors
...binism , cystinuria , pentosuria and, of course,
alkaptonuria . Full article >>> Galactosemia Galactosemia - Nutrition al Considerations ( Inborn Errors of Metabolism ) Galactosemia Screen ( Galactose -1-Phosphate Uridyltransferase) Galactosylcereamidase Deficiency ( Krabbe Disease ) G...
Cystinuria
...binism , cystinuria , pentosuria and, of course,
alkaptonuria . Full article >>> In addition to PKU , a variety of other amino acid metabolism disorders can be detected by these tests, including tyrosinosis, histidinemia, maple syrup urine disease , hypervalinemia, hyperprolinemia, and homo...
Calcification
...62;>> Other less common features of the
alkaptonuria include pigment deposition (aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation), renal stones, and prostate stones. Full article >>> Arterial blood gases may reveal metabolic acidosis...
Alkaptonuria
... genes on chromosome 3 are the HGD gene for
alkaptonuria , the BTD gene for biotinidase deficiency , the CPOX gene for hereditary copro porphyria , the MLH1 gene for hereditary nonpolyposis colorectal cancer (HNPCC), ... Full article >>>...
Albinism
...binism , cystinuria , pentosuria and, of course,
alkaptonuria . Full article >>>...