aminoaciduria


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aminoaciduria

 [ah-me″no-as″ĭ-du´re-ah]
an excess of amino acids in the urine; it may be either the overflow type caused by excessive levels in the blood, or the renal type caused by defective transport mechanisms in the renal tubules. Many types are called by the name of the amino acid plus the suffix -uria, such as cystinuria, lysinuria, and tryptophanuria.

a·mi·no·ac·i·du·ri·a

(ă-mē'nō-as-i-dyū'rē-ă),
Excretion of amino acids in the urine, especially in excessive amounts.
Synonym(s): hyperaminoaciduria
[amino acid + G. ouron, urine]

aminoaciduria

/ami·no·ac·id·u·ria/ (-as″ĭ-du´re-ah) an excess of amino acids in the urine.

aminoaciduria

(ə-mē′nō-ăs′ĭ-do͝or′ē-ə, -dyo͝or′-, ăm′ə-)
n.
A disorder of protein metabolism in which excessive amounts of amino acids are excreted in the urine.

aminoaciduria

[amē′nō·as′idoo͡r′ē·ə]
the abnormal presence of amino acids in the urine that usually indicates an inborn error of metabolism, as in cystinuria. Formerly called acidaminuria.

a·mi·no·ac·i·du·ri·a

(ă-mē'-nō-as'i-dyūr'ē-ă)
Excretion of amino acids in the urine, especially in excessive amounts.
[amino acid + G. ouron, urine]

aminoaciduria

The presence of amino acids in the urine. This occurs in a group of disorders that feature abnormal protein METABOLISM.

Aminoaciduria

A condition confirmed by laboratory tests where high levels of amino acids are found in the urine.

aminoaciduria

an excess in the urine of amino acids. Occurs in fanconi's syndrome, a familial renal disease of Norwegian elkhounds and Basenji dogs, and as a predisposing factor in the development of cystine uroliths.
References in periodicals archive ?
84%) Table 4: Positive screening tests reported Total number of samples analysed 119 Total number of positive tests reported 29 Generalised aminoaciduria 17 (58.
DISCUSSION: IN most of the aminoacidurias Seizures were a dominant symptom (27%), followed by delayed milestones (21%) as is reported in literature.
N [up arrow] Ca xP N LN 25-OHD LN [down arrow] 1,25-OHD N N NcAMP N [up arrow] IPTH N [up arrow] Urine: Calcium N LN Phosphate N N Aminoaciduria N O+ Clinical Risk factor Hypocalcaemic * [2.
Phenylketonuria (PKU) is the best known of the overflow aminoacidurias and is estimated to occur in 1 of every 10,000 to 20,000 births in the United States.
TREATMENT HISTORY: At age of omonths patient was diagnosed as nephropathy cystinosis with generalized aminoaciduria and at age of 4yrs with associated Renal Rickets.
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease.
In cases associated with Fanconi syndrome, the most classical presentation includes tubular dysfunction with aminoaciduria, phosphaturia, and glucosuria.
Histologic changes are paralleled by glucosuria, aminoaciduria, proteinuria, polyuria, and increased excretion of enzymes such as alkaline phosphatase and lactate dehydrogenase (5,10,12,17,20,21) as indicators of altered function of proximal tubules and cell damage, respectively.
The validity of random urine samples for the diagnosis of aminoaciduria has already been established using ion-exchange chromatography methods, although it is commonly accepted that there is a higher variation of amino acid concentrations in untimed samplings (15) and in 12-h urine collections (17) compared with 24-h collections.
Some examples of representative amino acid excretion in patients with aminoaciduria support the reliability of the reference intervals obtained.
Proximal tubular injury is associated with glucosuria, aminoaciduria, lactic aciduria, and 3-D-hydroxybutyric aciduria, along with reduced excretion of citric acid cycle intermediates, such as citrate and succinate (indicative of impaired oxidative metabolism), whereas medullary damage leads to the early appearance of dimethylamine-N-oxide and dimethylamine, followed by increased excretion of acetate and succinate.