SUPILANAS, IVY KEITH R.

FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

INBORN METABOLIC ERRORS

SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

DISORDERS ENZYME CLINICAL LABORATORY TEST AND POSITIVE

DEFICIENT MANIFESTATION FINDINGS RESULTS

Ferric Chloride Tube

Test- Blue Green
2,4Dinitrophenylket
Phenylalanine Mental Retardation Mousy Odor of Urine, onuria- Yellow
1. Phenylketonuria Hydroxylase Deficiency Increase Phenylalanine Phenistix- Green-
in blood and Urine Gray
Gutrie Test- Growth
of Bacillus Subtilis

Ferric Chloride Tube

2. Tyrosinuria Tyrosine transaminase Liver and Renal Disease Tyrosine and Leucine Test- Transient
crystals urine Green
Nitrosonapthol- Red
Phenistix- Transient
Green
Dark Black to blue Ferric Chloride Tube
3. Alkaptonuria Homogentisic acid Liver and cardiac Disorders pigmentation of Test- Transient Blue
oxidase deficiency cartilage and Silver Nitroprusside-
connective tissue Black
Ferric Chloride Tube
Test- Gray- Black
4. Melanuria Over proliferation of Malignant Melanoma Malignant Melanoma Ace Test-Red
melanin Sodium
Nitroprusside- Red

5. Maple Syrup Urine Deficiency in Mental Retardation Maple Syrup odor Ferric Chloride Tube
Disease (MSUD) decarboxylases and urine, Failure to thrive Test- Green- Gray
other enzyme needed Ace Test- Purple
to conversion of amino
acids and fatty acid
SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

6. Isovaleric Academias Isovaleric CoA in the Sweaty Feet odor of urine Sweaty Feet odor of 2,4Dinitrophenylket
leucine pathway urine onuria- Yellow
Ace Test- Purple

7. Indicanuria Intestinal Disorders, Generalized Blue Diaper Syndrome Ferric Chloride Tube
Hartnup Disease Aminoaciduria, Fanconis Test-Violet Blue
Syndrome with Chloroform
Sulfur Odor Urine, Cyanide
8. Cystinuria Detect of Renal Tubular Formation of Renal Calculi Cysteine Crystals in Nitroprusside- Red-
Reabsorption Urine Purple
SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

A.INBORN ERRORS OF METABOLISM

DISORDERS ENZYME CLINICAL LABORATORY TEST AND POSITIVE
DEFICIENT MANIFESTATION FINDINGS RESULTS
Ferric Chloride Tube Test-
Blue Green
2,4Dinitrophenylketonuria-
Phenylalanine Mental Retardation Mousy Odor of Urine, Yellow
1. Phenylketonuria Hydroxylase Increase Phenistix- Green-Gray
Deficiency Phenylalanine in blood Gutrie Test- Growth of
and Urine Bacillus Subtilis

Ferric Chloride Tube Test-

2. Tyrosinuria Tyrosine Liver and Renal Disease Tyrosine and Leucine Transient Green
transaminase crystals urine Nitrosonapthol- Red
Phenistix- Transient Green
Dark Black to blue Ferric Chloride Tube Test-
3. Alkaptonuria Homogentisic acid Liver and cardiac pigmentation of Transient Blue
oxidase deficiency Disorders cartilage and Silver Nitroprusside- Black
connective tissue
Ferric Chloride Tube Test-
Gray- Black
4. Melanuria Over proliferation of Malignant Melanoma Malignant Melanoma Ace Test-Red
melanin Sodium Nitroprusside- Red

5. Maple Syrup Deficiency in Mental Retardation Maple Syrup odor Ferric Chloride Tube Test-
Urine Disease decarboxylases and urine, Failure to thrive Green- Gray
(MSUD) other enzyme Ace Test- Purple
needed to conversion
of amino acids and
fatty acid
SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

6. Isovaleric Isovaleric CoA in the Sweaty Feet odor of Sweaty Feet odor of 2,4Dinitrophenylketonuria-
Academias leucine pathway urine urine Yellow
Ace Test- Purple

7. Indicanuria Intestinal Disorders, Generalized Blue Diaper Syndrome Ferric Chloride Tube Test-
Hartnup Disease Aminoaciduria, Violet Blue with
Fanconis Syndrome Chloroform
Sulfur Odor Urine, Cyanide Nitroprusside-
8. Cystinuria Detect of Renal Formation of Renal Cysteine Crystals in Red-Purple
Tubular Reabsorption Calculi Urine
9. Porphyrins Inborn error of Neurologic/ Psychiatric Port wine color of the Porphyrins
metabolism or symptoms urine
acquired through Cutaneous
erythrocytic and Photosensitivity
hepatic malfunctions
SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

B. ACQUIRED OVERFLOW DISORDERS

DISORDERS ENZYME CLINICAL LABORATORY TEST AND POSITIVE
DEFICIENT MANIFESTATION FINDINGS RESULTS
Ferric Chloride Tube Test-
1. Tyrosinuria Tyrosine Liver and Renal Tyrosine and Transient Green
transaminase Disease Leucine crystals Nitrosonapthol- Red
urine Phenistix- Transient Green
2. Maple Syrup Urine Deficiency in Ferric Chloride Tube Test-
Disease (MSUD) decarboxylases Green- Gray
and other Maple Syrup odor Ace Test- Purple
enzyme needed Mental Retardation urine, Failure to
to conversion of thrive
amino acids and
fatty acid
Ferric Chloride Tube Test-
Blue Green
2,4Dinitrophenylketonuria-
Phenylalanine Mental Retardation Mousy Odor of Yellow
3. Phenylketonuria Hydroxylase Urine, Phenistix- Green-Gray
Deficiency Increase Gutrie Test- Growth of
Phenylalanine in Bacillus Subtilis
blood and Urine

4. Cystinosis Inborn Error Deposition of cysteine Formation of Clinitest-Orange Red

deficiency crystals urinary Calculi
5. Mucopolysaccharides Inborn Error of Mental Retardation, CTAB Test- White Turbidity
Disorders Metabolism Accumulation of Abnormal Skeletal Metachromatic Staining-
Mucopolysaccharides Structure Blue Spot
in the cornea of the
eyes
SUPILANAS, IVY KEITH R. FEBRUARY 5, 2016

BSMT-3F SIR RODERICK BALCE

6. Lesch- Nyhan Disease Hypoxanthine Mental Retardation, Severe Motor Sand in Diapers- Orange
guanine Tendency Toward Self Detects, Renal
Phosphoribosyl Destruction Calculi
Transferase
Deficiency
Dark Black to blue Ferric Chloride Tube Test-
7. Alkaptonuria Homogentisic Liver and cardiac pigmentation of Transient Blue
acid oxidase Disorders cartilage and Silver Nitroprusside- Black
deficiency connective tissue

C.RENAL TUBULAR DEFECT

Sulfur Odor Urine, Cyanide
1. Cystinuria Detect of Renal Tubular Formation of Renal Cysteine Crystals in Nitroprusside-
Reabsorption Calculi Urine Red-Purple