Chapter 9 - Urine Screening for Metabolic Disorders

nitroso naphthol test

The ________ or tandem mass spectrophotometry is used.

recessive disorder

It is a sex- linked ________ and is rarely seen in females.

indicator

A(n) ________ is a strong maple syrup odor in the urine, and it is then confirmed and monitored by screening with the 2, 4- dinitrophenylhydrazine (DNPH) reaction; however, it is not specific.

white precipitate

A yellow or ________ must be seen in the presence of keto acids.

Clinitest

In the ________, a yellow precipitate is produced if it is present.

blue stains

It causes ________ in diapers and affects the renal tubular reabsorption of amino acids for cases of Hartnup disease.

Metachromatic staining procedures

________ use basic dyes to react with the acidic mucopolysaccharides.

Hunter

In ________ syndrome, the skeletal structure is abnormal and there is severe mental retardation.

isovaleric

There is no urine screening test for ________ and propionic acidemia, but methylmalonic aciduria can be screened using ρ- nitroaniline.

fair complexion

It can cause severe mental retardation, give urine a mousy odor and make skin a(n) ________.

renal failure

It causes ________ early in life, and it can become a benign form and be fatal.

Sanfilippo

In ________ syndrome, the only abnormality is mental retardation.

homogentistic acid test

In the ________, a black color is produced if it is present; however, it can be interfered by large amounts of ascorbic acid.

inborn error

It may be a(n) ________ or metabolism, the underdevelopment of the liver, or acquired liver disease.

Phenylketonuria (PKA)

________ is a disorder characterized by severe mental retardation, urine with a mousy odor and skin with fair complexion.

Tyrosyluria

________ is a disorder which, if inherited, causes both liver and renal tubular disease, producing a generalized aminoaciduria.

gray or black

In the ferric chloride test, a specimen is positive for melanuria if a ________ precipitate forms.

Alkaptonuria

________ is a disorder which is characterized by brown-stained or black-stained cloth diapers and reddish-stained disposable diapers in infancy.

Organic acidemias

________ are disorders characterized by early severe illness with vomiting and metabolic acidosis, hypoglycemia, ketonuria and increased serum ammonia.

Hartnup disease

________ causes a blue staining of infants' diapers, referred to as the “blue diaper syndrome.”

infantile nephropathic

Routine laboratory findings in ________ cystinosis include polyuria, generalized aminoaciduria, positive test results for reducing substances, and lack of urinary concentration.

Homocystinuria

________ is a disorder characterized by failure to thrive, cataracts, mental retardation, thromboembolic problems, and death.

red or port wine

An indication of the possible presence of porphyrinuria is the observation of a ________ color to the urine after exposure to air.

Hurler syndrome

________ is a condition where mucopolysaccharides accumulate in the cornea of the eye, the skeletal structure is abnormal and there is severe mental retardation.

Lesch-Nyhan disease

The first symptom of ________ is the observation of uric acid crystals resembling orange sand in diapers.

galactose-1-phosphate uridyl transferase (GALT)

The most severe form of galactosuria is ________ deficiency.