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Urine Screening for Metabolic Disorders
AMINO ACID DISORDERS 1.
Phenylketonuria (PKU)
2.
Tyrosyluria
3.
Alkaptonuria
4.
Melanuria
5.
MSUD
6.
Organic Acidemias
7.
Indicanuria
8.
5-Hydroxyindoleaceticacid
9.
Cystinuria
10.
Cystinosis
PHENYLALANINE-TYROSINE DISORDERS
BRANCHED CHAIN AMINO ACID DISORDERS TRYPTOPHAN DISORDERS CYSTINE DISORDERS
PHENYLALANINE-TYROSINE DISORDERS PHENYLKETONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Normal conversion of Build up of phenylalanine New Born Screening (24 phenylalanine to tyrosine is causes Mental Retardation hours after delivery) disrupted URINE Inheritance of the gene for FERRIC CHLORIDE TEST: the production of Positive: Blue Green (phenylpyruvic acid ) phenylalanine hydroxylase
TYROSYLURIA Etiology
Clinical Course
Method of Detection
Underdevelopment of the liver function Liver Disease
Tyrosine and leucine crystals might be seen during urine microscopy
New Born Screening
Severe liver diseases 1. Type 12. 3.
fumarylacetoacetate hydrolase Type 2- tyrosine aminotransferase TYPE 3- phydroxyphenylpyruvic acid dioxygenase
1. Type 1- renal tubular disorders and liver failure 2. Type 2- corneal erosion, lesions in the palms, fingers and soles 3. Type 3- mental retardation
Urine NITROSO- NAPHTHOL TEST Positive: Orange- Red Color FeCl3 test: Transient Green
MELANURIA
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Malignant Melanoma
Albinism
Urine Melanin reacts with SODIUM NITROFERRICYANIDE Positive: Red Color
Increased urinary melanin makes a dark urine upon exposure to air
FECL3 TEST: Gray or Black ppt
ALKAPTONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Failure to inherit the Accumulation of HA in Urine darkens when gene for homogentisic blood, tissues and alkaline at room acid oxidase enzyme urine temperature RED DISPOSABLE DIAPER SYNDROME Arthritis Liver Cardiac disorders
URINE FERRIC CHLORIDE TEST Positive: Transient Blue Color SILVER NITRATE TEST Positive: Black color
BRANCHED- CHAIN AMINO ACID DISORDERS MAPLE SYRUP URINE DISEASE ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Autosomal recessive trait
Failure to thrive after 1 week Sever mental retardation Death
Maple syrup urine odor
Leucine, Isoleucine, Valine in blood and urine Failure to inherit the enzyme needed for oxidative decarboxylation
URINE 2-4Dinitrophenylhydrazin e Test Positive: Yellow ppt
ORGANIC ACIDEMIAS ETIOLOGY
CLINICAL COURSE
Isovaleric Acidemia Vomiting *Deficiency of Metabolic Acidosis Isovaleryl Coenzyme A Hypoglycemia Ketonuria Propionic AND Increased Serum Methylmalonic ammonia *No conversion of isoleucine, valine, threonine and methionine to Succinyl coenzyme A
METHODS OF DETECTION Sweaty feet urine odor (IA)
Newborn Screening Test
TRYPTOPHAN DISORDERS INDICANURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Increase in converted indole
BLUE DIAPER SYNDROME
Indigo blue colored urine when exposed to air
Causes: Intestinal disorders (eg obstruction) Abnormal bacteria Malabsorption Hartnup’s Disease
FANCONI’S SYNDROME
Urine FeCl3 Test Positive: violet with chloroform
5HIAA (Argentaffinoma) ETIOLOGY Carcinoid tumors of argentaffin
CLINICAL COURSE
DETECTION METHOD Urine SILVER NITROPRUSSIDE TEST Positive: Purple to black FeCl3 Positive: Blue Green HPLC with FLOURESCENCE
CYSTINE DISORDERS CYSTINURIA ETIOLOGY
CLINICAL COURSE
METHOD OF DETECTION
Inability of the renal tubule to reabsorb cystine (inherited)
May lead to formation of renal calculi
Cystine crystal in urine Urine CYANIDE- NITROPRUSSIDE TEST Positive: Red Purple Color
CYSTINOSIS Etiology
Clinical Course
Methods of Detection
Nephropathic *defect on the lysosomal membrane not allowing the release of cystine into the cells for metabolism
Crystalline deposits on cornea, bone marrow, lymph nodes, internal organs
S&S Lack of urinary concentration Generalized aminociduruia
Nonnephropathic
Benign, some ocular disorders
Fanconi’s Syndrome (not inherited)
HOMOCYSTINURIA Etiology
Clinical Course
Methods of Detection
Defects in the metabolism of methionine and homocystine
Failure to thrive Cataracts Mental Retardation Death
Newborn Screening Urine SILVER NITROPRUSSIDE TEST Positive: Red-purple
PORPHYRIN DISORDERS
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Lead Poisoning Excess alcohol intake Fe deficiency Renal disease Chronic liver disease
Photosensitivity Neurologic Psychiatric
Port Wine (Erythropoetic porphyria) Red discoloration in infant’s urine (Congenital porphyria)
WATSON SCHWARTZ TEST Urobilinogen
Porphobilinogen
Other Ehrlich-Reactive Substances
Colorless Red
Red Colorless
Red Colorless
Red Colorless
Colorless Red
Red Colorless
Chloroform Extraction Top Layer: Urine Bottom Layer: Chloroform
Butanol Extraction Top Layer: Butanol Bottom Layer: Urine
HOESCH TEST HOESCH’S REAGENT
Ehrlich’s reagent dissolved in 6M HCl (2 mg/dL)
Observe the top of the solution for the appearance of a red color
Urobilinogen is inhibited by highly acidic pH
MUCOPOLYSACCHARIDE DISORDERS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Inability to metabolize mucopolysaccharides results to accumulation of polysaccharides to the lysosomes of connective tissue cells and increased excretion in the urine
Hurler’s *accumulation in the cornea • Abnormal skeletal structures • Mental retardation
Urine Acid albumin CTAB turbidity test Positive: white turbidity
Sanfilippo’s * Mental retardation
Metachromatic staining spot test
PURINE DISORDERS Lesch Nyhan Disease
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
No inherited gene for the production of hypoxanthine guanine phosphoribosyl transferase
Excessive accumulation of uric acid crystals in the body
Orange sands in diapers
Motor defects, gout, renal calculi, mental retardation
CARBOHYDRATE DISORDERS
GALACTUSORIA Deficiency in GALT Galactokinase UDP-galactose-4-epimerase
LACTOSURIA
FRUCTOSURIA
PENTOSURIA
Urine Screening for Metabolic Disorders
AMINO ACID DISORDERS 1.
Phenylketonuria (PKU)
2.
Tyrosyluria
3.
Alkaptonuria
4.
Melanuria
5.
MSUD
6.
Organic Acidemias
7.
Indicanuria
8.
5-Hydroxyindoleaceticacid
9.
Cystinuria
10.
Cystinosis
PHENYLALANINE-TYROSINE DISORDERS
BRANCHED CHAIN AMINO ACID DISORDERS TRYPTOPHAN DISORDERS CYSTINE DISORDERS
PHENYLALANINE-TYROSINE DISORDERS PHENYLKETONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Normal conversion of Build up of phenylalanine New Born Screening (24 phenylalanine to tyrosine is causes Mental Retardation hours after delivery) disrupted URINE Inheritance of the gene for FERRIC CHLORIDE TEST: the production of Positive: Blue Green (phenylpyruvic acid ) phenylalanine hydroxylase
TYROSYLURIA Etiology
Clinical Course
Method of Detection
Underdevelopment of the liver function Liver Disease
Tyrosine and leucine crystals might be seen during urine microscopy
New Born Screening
Severe liver diseases
1. Type 1- fumarylacetoacetate hydrolase
2. Type 2- tyrosine aminotransferase 3. TYPE 3- p-hydroxyphenylpyruvic acid dioxygenase
1. Type 1- renal tubular disorders and liver failure 2. Type 2- corneal erosion, lesions in the palms, fingers and soles 3. Type 3- mental retardation
Urine NITROSO- NAPHTHOL TEST Positive: Orange- Red Color FeCl3 test: Transient Green
MELANURIA
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Malignant Melanoma
Albinism
Urine Melanin reacts with SODIUM NITROFERRICYANIDE Positive: Red Color
Increased urinary melanin makes a dark urine upon exposure to air
FECL3 TEST: Gray or Black ppt
ALKAPTONURIA ETIOLOGY
Failure to inherit the gene for homogentisic acid oxidase enzyme
CLINICAL COURSE
METHODS OF DETECTION
Accumulation of HA in blood, tissues and urine
Urine darkens when alkaline at room temperature
RED DISPOSABLE DIAPER SYNDROME
URINE FERRIC CHLORIDE TEST Positive: Transient Blue Color
Arthritis Liver Cardiac disorders
SILVER NITRATE TEST Positive: Black color
BRANCHED- CHAIN AMINO ACID DISORDERS MAPLE SYRUP URINE DISEASE ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Autosomal recessive trait
Failure to thrive after 1 week Sever mental retardation Death
Maple syrup urine odor
Leucine, Isoleucine, Valine in blood and urine Failure to inherit the enzyme needed for oxidative decarboxylation
URINE 2-4- Dinitrophenylhydrazine Test Positive: Yellow ppt
ORGANIC ACIDEMIAS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Isovaleric Acidemia *Deficiency of Isovaleryl Coenzyme A
Vomiting Metabolic Acidosis Hypoglycemia Ketonuria Increased Serum ammonia
Sweaty feet urine odor (IA)
Propionic AND Methylmalonic *No conversion of isoleucine, valine, threonine and methionine to Succinyl coenzyme A
Newborn Screening Test
TRYPTOPHAN DISORDERS INDICANURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Increase in converted indole
BLUE DIAPER SYNDROME
Indigo blue colored urine when exposed to air
Causes: Intestinal disorders (eg obstruction) Abnormal bacteria Malabsorption Hartnup’s Disease
FANCONI’S SYNDROME
Urine FeCl3 Test Positive: violet with chloroform
5HIAA (Argentaffinoma) ETIOLOGY Carcinoid tumors of argentaffin
CLINICAL COURSE
DETECTION METHOD Urine SILVER NITROPRUSSIDE TEST Positive: Purple to black FeCl3 Positive: Blue Green HPLC with FLOURESCENCE
CYSTINE DISORDERS CYSTINURIA ETIOLOGY
CLINICAL COURSE
METHOD OF DETECTION
Inability of the renal tubule to reabsorb cystine (inherited)
May lead to formation of renal calculi
Cystine crystal in urine Urine CYANIDE- NITROPRUSSIDE TEST Positive: Red Purple Color
CYSTINOSIS Etiology
Clinical Course
Nephropathic *defect on the lysosomal membrane not allowing the release of cystine into the cells for metabolism
Crystalline deposits on S&S cornea, bone marrow, lymph Lack of urinary concentration nodes, internal organs Generalized aminociduruia
Nonnephropathic
Fanconi’s Syndrome (not inherited) Benign, some ocular disorders
Methods of Detection
HOMOCYSTINURIA Etiology
Clinical Course
Methods of Detection
Defects in the metabolism of methionine and homocystine
Failure to thrive Cataracts Mental Retardation Death
Newborn Screening Urine SILVER NITROPRUSSIDE TEST Positive: Red-purple
PORPHYRIN DISORDERS
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Lead Poisoning Excess alcohol intake Fe deficiency Renal disease Chronic liver disease
Photosensitivity Neurologic Psychiatric
Port Wine (Erythropoetic porphyria) Red discoloration in infant’s urine (Congenital porphyria)
WATSON SCHWARTZ TEST
Chloroform Extraction Top Layer: Urine Bottom Layer: Chloroform Butanol Extraction Top Layer: Butanol Bottom Layer: Urine
Urobilinogen
Porphobilinogen
Other Ehrlich-Reactive Substances
Colorless
Red
Red
Red
Colorless
Colorless
Red
Colorless
Red
Colorless
Red
Colorless
HOESCH TEST HOESCH’S REAGENT
Ehrlich’s reagent dissolved in 6M HCl (2 mg/dL)
Observe the top of the solution for the appearance of a red color
Urobilinogen is inhibited by highly acidic pH
MUCOPOLYSACCHARIDE DISORDERS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Inability to metabolize mucopolysaccharides results to accumulation of polysaccharides to the lysosomes of connective tissue cells and increased excretion in the urine
Hurler’s *accumulation in the cornea • Abnormal skeletal structures • Mental retardation
Urine Acid albumin
Sanfilippo’s * Mental retardation
Metachromatic staining spot test
CTAB turbidity test Positive: white turbidity
PURINE DISORDERS Lesch Nyhan Disease
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
No inherited gene for the production of hypoxanthine guanine phosphoribosyl transferase
Excessive accumulation of uric acid crystals in the body
Orange sands in diapers
Motor defects, gout, renal calculi, mental retardation
CARBOHYDRATE DISORDERS
GALACTUSORIA Deficiency in GALT Galactokinase UDP-galactose-4-epimerase
LACTOSURIA
FRUCTOSURIA
PENTOSURIA
AMINO ACID DISORDERS 1.
Phenylketonuria (PKU)
2.
Tyrosyluria
3.
Alkaptonuria
4.
Melanuria
5.
MSUD
6.
Organic Acidemias
7.
Indicanuria
8.
5-Hydroxyindoleaceticacid
9.
Cystinuria
10.
Cystinosis
PHENYLALANINE-TYROSINE DISORDERS
BRANCHED CHAIN AMINO ACID DISORDERS TRYPTOPHAN DISORDERS CYSTINE DISORDERS
PHENYLALANINE-TYROSINE DISORDERS PHENYLKETONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Normal conversion of Build up of phenylalanine New Born Screening (24 phenylalanine to tyrosine is causes Mental Retardation hours after delivery) disrupted URINE Inheritance of the gene for FERRIC CHLORIDE TEST: the production of Positive: Blue Green (phenylpyruvic acid ) phenylalanine hydroxylase
TYROSYLURIA Etiology
Clinical Course
Method of Detection
Underdevelopment of the liver function Liver Disease
Tyrosine and leucine crystals might be seen during urine microscopy
New Born Screening
Severe liver diseases 1. Type 12. 3.
fumarylacetoacetate hydrolase Type 2- tyrosine aminotransferase TYPE 3- phydroxyphenylpyruvic acid dioxygenase
1. Type 1- renal tubular disorders and liver failure 2. Type 2- corneal erosion, lesions in the palms, fingers and soles 3. Type 3- mental retardation
Urine NITROSO- NAPHTHOL TEST Positive: Orange- Red Color FeCl3 test: Transient Green
MELANURIA
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Malignant Melanoma
Albinism
Urine Melanin reacts with SODIUM NITROFERRICYANIDE Positive: Red Color
Increased urinary melanin makes a dark urine upon exposure to air
FECL3 TEST: Gray or Black ppt
ALKAPTONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Failure to inherit the Accumulation of HA in Urine darkens when gene for homogentisic blood, tissues and alkaline at room acid oxidase enzyme urine temperature RED DISPOSABLE DIAPER SYNDROME Arthritis Liver Cardiac disorders
URINE FERRIC CHLORIDE TEST Positive: Transient Blue Color SILVER NITRATE TEST Positive: Black color
BRANCHED- CHAIN AMINO ACID DISORDERS MAPLE SYRUP URINE DISEASE ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Autosomal recessive trait
Failure to thrive after 1 week Sever mental retardation Death
Maple syrup urine odor
Leucine, Isoleucine, Valine in blood and urine Failure to inherit the enzyme needed for oxidative decarboxylation
URINE 2-4Dinitrophenylhydrazin e Test Positive: Yellow ppt
ORGANIC ACIDEMIAS ETIOLOGY
CLINICAL COURSE
Isovaleric Acidemia Vomiting *Deficiency of Metabolic Acidosis Isovaleryl Coenzyme A Hypoglycemia Ketonuria Propionic AND Increased Serum Methylmalonic ammonia *No conversion of isoleucine, valine, threonine and methionine to Succinyl coenzyme A
METHODS OF DETECTION Sweaty feet urine odor (IA)
Newborn Screening Test
TRYPTOPHAN DISORDERS INDICANURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Increase in converted indole
BLUE DIAPER SYNDROME
Indigo blue colored urine when exposed to air
Causes: Intestinal disorders (eg obstruction) Abnormal bacteria Malabsorption Hartnup’s Disease
FANCONI’S SYNDROME
Urine FeCl3 Test Positive: violet with chloroform
5HIAA (Argentaffinoma) ETIOLOGY Carcinoid tumors of argentaffin
CLINICAL COURSE
DETECTION METHOD Urine SILVER NITROPRUSSIDE TEST Positive: Purple to black FeCl3 Positive: Blue Green HPLC with FLOURESCENCE
CYSTINE DISORDERS CYSTINURIA ETIOLOGY
CLINICAL COURSE
METHOD OF DETECTION
Inability of the renal tubule to reabsorb cystine (inherited)
May lead to formation of renal calculi
Cystine crystal in urine Urine CYANIDE- NITROPRUSSIDE TEST Positive: Red Purple Color
CYSTINOSIS Etiology
Clinical Course
Methods of Detection
Nephropathic *defect on the lysosomal membrane not allowing the release of cystine into the cells for metabolism
Crystalline deposits on cornea, bone marrow, lymph nodes, internal organs
S&S Lack of urinary concentration Generalized aminociduruia
Nonnephropathic
Benign, some ocular disorders
Fanconi’s Syndrome (not inherited)
HOMOCYSTINURIA Etiology
Clinical Course
Methods of Detection
Defects in the metabolism of methionine and homocystine
Failure to thrive Cataracts Mental Retardation Death
Newborn Screening Urine SILVER NITROPRUSSIDE TEST Positive: Red-purple
PORPHYRIN DISORDERS
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Lead Poisoning Excess alcohol intake Fe deficiency Renal disease Chronic liver disease
Photosensitivity Neurologic Psychiatric
Port Wine (Erythropoetic porphyria) Red discoloration in infant’s urine (Congenital porphyria)
WATSON SCHWARTZ TEST Urobilinogen
Porphobilinogen
Other Ehrlich-Reactive Substances
Colorless Red
Red Colorless
Red Colorless
Red Colorless
Colorless Red
Red Colorless
Chloroform Extraction Top Layer: Urine Bottom Layer: Chloroform
Butanol Extraction Top Layer: Butanol Bottom Layer: Urine
HOESCH TEST HOESCH’S REAGENT
Ehrlich’s reagent dissolved in 6M HCl (2 mg/dL)
Observe the top of the solution for the appearance of a red color
Urobilinogen is inhibited by highly acidic pH
MUCOPOLYSACCHARIDE DISORDERS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Inability to metabolize mucopolysaccharides results to accumulation of polysaccharides to the lysosomes of connective tissue cells and increased excretion in the urine
Hurler’s *accumulation in the cornea • Abnormal skeletal structures • Mental retardation
Urine Acid albumin CTAB turbidity test Positive: white turbidity
Sanfilippo’s * Mental retardation
Metachromatic staining spot test
PURINE DISORDERS Lesch Nyhan Disease
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
No inherited gene for the production of hypoxanthine guanine phosphoribosyl transferase
Excessive accumulation of uric acid crystals in the body
Orange sands in diapers
Motor defects, gout, renal calculi, mental retardation
CARBOHYDRATE DISORDERS
GALACTUSORIA Deficiency in GALT Galactokinase UDP-galactose-4-epimerase
LACTOSURIA
FRUCTOSURIA
PENTOSURIA
Urine Screening for Metabolic Disorders
AMINO ACID DISORDERS 1.
Phenylketonuria (PKU)
2.
Tyrosyluria
3.
Alkaptonuria
4.
Melanuria
5.
MSUD
6.
Organic Acidemias
7.
Indicanuria
8.
5-Hydroxyindoleaceticacid
9.
Cystinuria
10.
Cystinosis
PHENYLALANINE-TYROSINE DISORDERS
BRANCHED CHAIN AMINO ACID DISORDERS TRYPTOPHAN DISORDERS CYSTINE DISORDERS
PHENYLALANINE-TYROSINE DISORDERS PHENYLKETONURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Normal conversion of Build up of phenylalanine New Born Screening (24 phenylalanine to tyrosine is causes Mental Retardation hours after delivery) disrupted URINE Inheritance of the gene for FERRIC CHLORIDE TEST: the production of Positive: Blue Green (phenylpyruvic acid ) phenylalanine hydroxylase
TYROSYLURIA Etiology
Clinical Course
Method of Detection
Underdevelopment of the liver function Liver Disease
Tyrosine and leucine crystals might be seen during urine microscopy
New Born Screening
Severe liver diseases
1. Type 1- fumarylacetoacetate hydrolase
2. Type 2- tyrosine aminotransferase 3. TYPE 3- p-hydroxyphenylpyruvic acid dioxygenase
1. Type 1- renal tubular disorders and liver failure 2. Type 2- corneal erosion, lesions in the palms, fingers and soles 3. Type 3- mental retardation
Urine NITROSO- NAPHTHOL TEST Positive: Orange- Red Color FeCl3 test: Transient Green
MELANURIA
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Malignant Melanoma
Albinism
Urine Melanin reacts with SODIUM NITROFERRICYANIDE Positive: Red Color
Increased urinary melanin makes a dark urine upon exposure to air
FECL3 TEST: Gray or Black ppt
ALKAPTONURIA ETIOLOGY
Failure to inherit the gene for homogentisic acid oxidase enzyme
CLINICAL COURSE
METHODS OF DETECTION
Accumulation of HA in blood, tissues and urine
Urine darkens when alkaline at room temperature
RED DISPOSABLE DIAPER SYNDROME
URINE FERRIC CHLORIDE TEST Positive: Transient Blue Color
Arthritis Liver Cardiac disorders
SILVER NITRATE TEST Positive: Black color
BRANCHED- CHAIN AMINO ACID DISORDERS MAPLE SYRUP URINE DISEASE ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Autosomal recessive trait
Failure to thrive after 1 week Sever mental retardation Death
Maple syrup urine odor
Leucine, Isoleucine, Valine in blood and urine Failure to inherit the enzyme needed for oxidative decarboxylation
URINE 2-4- Dinitrophenylhydrazine Test Positive: Yellow ppt
ORGANIC ACIDEMIAS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Isovaleric Acidemia *Deficiency of Isovaleryl Coenzyme A
Vomiting Metabolic Acidosis Hypoglycemia Ketonuria Increased Serum ammonia
Sweaty feet urine odor (IA)
Propionic AND Methylmalonic *No conversion of isoleucine, valine, threonine and methionine to Succinyl coenzyme A
Newborn Screening Test
TRYPTOPHAN DISORDERS INDICANURIA ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Increase in converted indole
BLUE DIAPER SYNDROME
Indigo blue colored urine when exposed to air
Causes: Intestinal disorders (eg obstruction) Abnormal bacteria Malabsorption Hartnup’s Disease
FANCONI’S SYNDROME
Urine FeCl3 Test Positive: violet with chloroform
5HIAA (Argentaffinoma) ETIOLOGY Carcinoid tumors of argentaffin
CLINICAL COURSE
DETECTION METHOD Urine SILVER NITROPRUSSIDE TEST Positive: Purple to black FeCl3 Positive: Blue Green HPLC with FLOURESCENCE
CYSTINE DISORDERS CYSTINURIA ETIOLOGY
CLINICAL COURSE
METHOD OF DETECTION
Inability of the renal tubule to reabsorb cystine (inherited)
May lead to formation of renal calculi
Cystine crystal in urine Urine CYANIDE- NITROPRUSSIDE TEST Positive: Red Purple Color
CYSTINOSIS Etiology
Clinical Course
Nephropathic *defect on the lysosomal membrane not allowing the release of cystine into the cells for metabolism
Crystalline deposits on S&S cornea, bone marrow, lymph Lack of urinary concentration nodes, internal organs Generalized aminociduruia
Nonnephropathic
Fanconi’s Syndrome (not inherited) Benign, some ocular disorders
Methods of Detection
HOMOCYSTINURIA Etiology
Clinical Course
Methods of Detection
Defects in the metabolism of methionine and homocystine
Failure to thrive Cataracts Mental Retardation Death
Newborn Screening Urine SILVER NITROPRUSSIDE TEST Positive: Red-purple
PORPHYRIN DISORDERS
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Lead Poisoning Excess alcohol intake Fe deficiency Renal disease Chronic liver disease
Photosensitivity Neurologic Psychiatric
Port Wine (Erythropoetic porphyria) Red discoloration in infant’s urine (Congenital porphyria)
WATSON SCHWARTZ TEST
Chloroform Extraction Top Layer: Urine Bottom Layer: Chloroform Butanol Extraction Top Layer: Butanol Bottom Layer: Urine
Urobilinogen
Porphobilinogen
Other Ehrlich-Reactive Substances
Colorless
Red
Red
Red
Colorless
Colorless
Red
Colorless
Red
Colorless
Red
Colorless
HOESCH TEST HOESCH’S REAGENT
Ehrlich’s reagent dissolved in 6M HCl (2 mg/dL)
Observe the top of the solution for the appearance of a red color
Urobilinogen is inhibited by highly acidic pH
MUCOPOLYSACCHARIDE DISORDERS ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
Inability to metabolize mucopolysaccharides results to accumulation of polysaccharides to the lysosomes of connective tissue cells and increased excretion in the urine
Hurler’s *accumulation in the cornea • Abnormal skeletal structures • Mental retardation
Urine Acid albumin
Sanfilippo’s * Mental retardation
Metachromatic staining spot test
CTAB turbidity test Positive: white turbidity
PURINE DISORDERS Lesch Nyhan Disease
ETIOLOGY
CLINICAL COURSE
METHODS OF DETECTION
No inherited gene for the production of hypoxanthine guanine phosphoribosyl transferase
Excessive accumulation of uric acid crystals in the body
Orange sands in diapers
Motor defects, gout, renal calculi, mental retardation
CARBOHYDRATE DISORDERS
GALACTUSORIA Deficiency in GALT Galactokinase UDP-galactose-4-epimerase
LACTOSURIA
FRUCTOSURIA
PENTOSURIA
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