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]

• Poor Growth

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

• Collapse

  Reprints Download Citation Citation Alerts Previous Article Next Article Related Articles Thyroid-Catecholamine Interrelations S S Waldstein Annual Review of Medicine Familial Carbohydrate Intolerance and Hypoglycemia M Cornblath Annual Review of Medicine collapse [annualreviews.org]

  Osteoporosis is an important part of the clinical picture, with vertebral collapse. [ 24 ] Diagnosis depends upon the demonstration of a failure to increase plasma lysine levels after oral lysine loads or the ingestion of lysyl peptides. [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]

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]

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]

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]

Other possible etiologies for endogenous pellagra, besides Hartnup disease, are prolonged use of isoniazide or 6-mercaptopurine and carcinoid tumors, none of those being observed in the present patient. 5 Thus, given the clinical presentation of the patient [scielo.br]

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]

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]

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

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