Alkaptonuria - Case report

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.

Alcaptonúria (ocronose) / Alkaptonuria (ochronosis)

A ocronose, manifestação clínica da alcaptonúria nos tecidos conectivos, geralmente leva a uma degeneração discal grave, com quadro radiológico exuberante e pouca sintomatologia, sendo o tratamento cirúrgico raramente necessário. Este trabalho relata o caso de um paciente com ocronose que desenvolveu uma radiculopatia em L5, à esquerda, secundária a hérnia discal paramediana esquerda, entre L4 e L5, que não melhorou com o tratamento fisioterápico efetuado durante quatro meses. Optou-se por tratamento cirúrgico com discectomia isolada, e o resultado foi o desaparecimento dos sintomas da radiculopatia em L5, sem recidiva nos 26 meses subsequentes de acompanhamento.

Ochronosis, alkaptonuric clinical presentation in connective tissues, often runs with severe disc degeneration. In these patients, symptoms and clinical signs of disc degeneration usually are not as prominent as might be expected from the extent of disease observed on X-ray, and discectomy is rarely needed. We report a case of disc herniation in an ochronotic patient with left L5 radiculopathy, with symptoms and clinical signs not responsive to 4-month physical therapy. Discectomy was performed, with sustained good results after a 26-month follow-up.

Aminoacidurias in northern areas of Pakistan

The aminoacidurias are among the major inborn errors of metabolism. Awareness for early detection of patients of aminoacidurias is increasing with the advancement in the treatment, genetic counseling and ante-natal diagnostic procedures. Incidence of aminoacidurias is different in different parts of the world. A study was planned to determine the prevalence of the aminoacidurias in northern areas of Pakistan. A total of 2089 children [11 56 males and 933 females], were subjected to metabolic screening which included Ferric Chloride, Cyanide nitroprusside, 2, 4, Dinitrophenylhydrazine and silver nitrate tests on the urine samples. Two dimensional thin layer chromatography was performed on positive urine specimen to confirm the diagnosis. The pattern of amino acid excretion in healthy children is almost similar to already reported data from other countries except that threonine and tyrosine were not detected in older children i.e. beyond 4 years of age. Out of 2089 subjects, 19 cases of aminoacidurias were detected, comprising of 11 [0.5%] cases of alkaptonuria, 3 [0.14%] of Cystinuria, 3 [0.14%] of Phenylketonuria and 1 case each of histidinemia and tyrosinemia were found. Alkaptonuria is the commonest disorder detected in our study. Screening at early age should be mandatory