The subject and several males of his family present behavioural disturbances of an enduring type. An aminoaciduria was discovered in the subject and his father. [ncbi.nlm.nih.gov]

It usually presents with cystine stone formation in the kidneys; a quarter of patients experience symptoms in the first decade of life. [patient.info]

Affected individuals present with the displacement of optic lenses known as ectopia lentis, mental retardation, skeletal abnormalities, osteoporosis, and premature arterial disease. [wisegeek.com]

• Poor Growth

  Failure to thrive and poor appetite are common with poor growth. Stones do not form. Occasionally, intermittent hyperammonaemic encephalopathy occurs. [patient.info]

  If unrecognised, severe tubulopathy leads to poor growth, general malaise and metabolic bone disease which can result in pathological fractures [4, 5]. [pilotfeasibilitystudies.biomedcentral.com]

• Malaise

  If unrecognised, severe tubulopathy leads to poor growth, general malaise and metabolic bone disease which can result in pathological fractures [4, 5]. [pilotfeasibilitystudies.biomedcentral.com]

• Hyperpigmentation

  Permanent hypopigmentation and/or hyperpigmentation of the skin occur with repeated exposure to sunlight. Prognosis Malnutrition and a low-protein diet increase morbidity. Attacks become less frequent with increasing age. [patient.info]

• Diplopia

  Ocular manifestations include diplopia, nystagmus, photophobia, and strabismus. Gingivitis, stomatitis and glossitis suggest niacin deficiency. Diarrhoea occasionally precedes or follows attacks of the disease. [patient.info]

• Nystagmus

  Ocular manifestations include diplopia, nystagmus, photophobia, and strabismus. Gingivitis, stomatitis and glossitis suggest niacin deficiency. Diarrhoea occasionally precedes or follows attacks of the disease. [patient.info]

Eleven studies have also been carried out in ten patients with stable renal failure before and during treatment with different metabolites of vitamin D. [ncbi.nlm.nih.gov]

Treatment includes a diet high in protein and nicotinamide supplementation. [wisegeek.com]

Prognosis - Dibasic aminoaciduria 1 Not supplied. Treatment - Dibasic aminoaciduria 1 Not supplied. Resources - Dibasic aminoaciduria 1 Not supplied. [checkorphan.org]

Prognosis The prognosis of cystinuria is variable and depends on the level of renal function at the time of diagnosis and initiation of therapy, and the success of preventative measures and surgical management. [encyclopedia.com]

Prognosis Malnutrition and a low-protein diet increase morbidity. Attacks become less frequent with increasing age. [patient.info]

It can equally result from defects in the renal tubular reabsorption of the same amino acids; and, in regard to this latter phase, etiology would include many types of renal injury caused by inborn errors of cell metabolism, toxic agents, or vitamin deficiency [jamanetwork.com]

However, since the description of aminoaciduria in hyperparathyroidism, the literature has been divided concerning the etiology of aminoacidura in conditions associated with abnormal vitamin D metabolism because secondary hyperparathyroidism often occurs [ncbi.nlm.nih.gov]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

Hartnup Disease Epidemiology Hartnup disorder (OMIM 234500) is an autosomal recessive disorder occurring at a frequency of about 1:30,000 in European populations. The disorder was first described in 1956 by Baron et al. [flipper.diff.org]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

To better understand the pathophysiologic mechanism of aminoaciduria, we placed weanling rats on various vitamin D-deficient diets for 4-7 weeks. [nature.com]

Physiology and pathophysiology". Examination of Kidney Function. Translated by Cort, JH. Dordrecht: Springer Netherlands. p. 252. ISBN 9789400956605. ^ a b Crook, Martin Andrew (2012). "Chapter 27: Inborn errors of metabolism". [en.wikipedia.org]

The treatment goal is to prevent stone formation by lifelong alkaline diuresis. [wisegeek.com]

An early re-equilibration of the amino acid metabolism can prevent the risk of developing, at the adult age, certain anemias and other diseases (rachitism, mental handicap, urinary infections, conjunctivitis, stomatitis, a.o.). [ncbi.nlm.nih.gov]

[…] in the infant.Early tests may prevent many disorders like alkaptonuria, cystinosis, galactosemia, rickets, Wilson’s disease and other metabolism related disorders. [medigoo.com]

Treatment and management Prevention The primary goal of treatment of cystinuria is prevention of existing cystine stones through non-invasive means. [encyclopedia.com]

Early treatment for these conditions may prevent complications in the future. Amino acids - urine; Urine amino acids Camargo SMR, Makrides V, Kleta R, Verrey F. Kidney transport of amino acids and oligopeptides, and aminoacidurias. [nlm.nih.gov]