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More than 100+ Metabolic Disorders Tested

A simple urine test can identify metabolic disorders without causing any harm or discomfort to your baby. From your newborn baby's single urine specimen, more than 100 metabolic disorders from 9 groups of inborn errors of metabolism can be identified via Metascreen™ using GC/MS. In comparison, dried blood spot screening using MS/MS can only detect less than 50 metabolic disorders. Below is a complete list of the metabolic disorders that will be testedcan be detected with Metascreen™.

NameSymptoms
Propionic aciduria Poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. May progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.
Holocarboxylase synthetase deficiency Poor feeding, lethargy, behavior changes, weak muscle tone (hypotonia), and severe eczema. Untreated children can develop skin rashes, hair loss (alopecia), vision/hearing loss, failure to thrive, developmental delays, abnormal tensing of the muscles (spasticity), difficulty with balance and coordination (ataxia), seizures, and death.
Methylmalonic aciduria (Cbl C and Cbl D) Acute neurological deterioration, retinal deterioration, small head size (microcephaly), severe brain abnormalities, severe learning difficulties, behavioral problems and movement, and deviation from normal walking (gait abnormalities).
Methylmalonic Aciduria Excessive acid in the body (metabolic acidosis), dehydration, excess of ammonia in the blood (hyperammonemia), present of ketone bodies in the urine (ketonuria), vomiting, low levels of blood sugar (hypoglycemia), and failure to thrive.
Methylmalonic aciduria (Cbl A and Cbl B) Excessive acid in the body (metabolic acidosis), dehydration, excess of ammonia in the blood (hyperammonemia), present of ketone bodies in the urine (ketonuria), vomiting, low levels of blood sugar (hypoglycemia), and failure to thrive.
Malonic aciduria Developmental delays, weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low levels of blood sugar (hypoglycemia).
Isobutyryl-CoA dehydrogenase deficiency Weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delays.
2-methylbutyryl-CoA dehydrogenase deficiency Poor feeding, lethargy, vomiting, and an irritable mood. May progress to serious medical problems such as difficulty breathing, seizures, and coma.
Methylmalonic Semialdehyde Dehydrogenase Deficiency Developmental delays.
Beta-ketothiolase deficiency Vomiting, dehydration, difficulty breathing, lethargy, and seizures.
Isovaleric aciduria Poor feeding, vomiting, seizures, and lethargy. May progress to more serious medical problems, including seizures, coma, and possibly death.
3-Methylcrotonylglycinuria Poor feeding, recurrent episodes of vomiting and diarrhea, lethargy, and weak muscle tone (hypotonia). If untreated, this disorder can lead to developmental delays, seizures, and coma.
3-Methylglutaconic aciduria (type I - hydratase deficiency) Speech delay, psychomotor delay, excessive acid in the body (metabolic acidosis), abnormal muscle tone, and one of the most severe forms of cerebral palsy (spactic quadriparesis).
Barth Syndrome Weakened and enlarged heart (dilated cardiomyopathy), neutropenia, skeletal muscle weakmess, and developmental delays.
3-hydroxy 3-methyl glutaric aciduria Vomiting, diarrhea, dehydration, lethargy, and weak muscle tone (hypotonia). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death.
Glutaric aciduria type II Poor feeding, vomitting, and possible death. Severe cases can cause brain malformations, an enlarged liver, Weakened and enlarged heart (dilated cardiomyopathy), malformations of the kidneys, unusual facial features, and genital abnormalities.
Glutaric aciduria type I Unusually large heads (macrocephaly), spasms, and decreased muscle tone.
Mevalonate kinase deficiency Developmental delays, progressive difficulty with balance and coordination (ataxia), progressive problems with vision, and failure to thrive. Typically have an unusually small, elongated head
Glyceroluria Developmental delays. 
Phenylketonuria (phenylalanine hydroxylase deficiency) Permanent intellectual disability, seizures, developmental delays, behavioral problems, and psychiatric disorders
Hyperphenylalaninemia (variant, benign) Increased risk of developing brain damage.
2-Methyl 3-hydroxy butyric aciduria Excessive acid in the body (metabolic acidosis), low levels of blood sugar (hypoglycemia), weak muscle tone (hypotonia), seizures, movement problems, retinal degeneration, and hearing loss. 
Tyrosinemia type I (hepatorenal tyrosinemia) Failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). May also lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer.
Tyrosinemia type II (oculocutaneous tyrosinemia) Excessive tearing, abnormal sensitivity to light, eye pain and redness, and painful skin lesions on the palms and soles. May also have some degree of intellectual disability.
Tyrosinemia type III (4-hydroxyphenylpyruvate dioxygenase def.) Intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).
Transient tyrosinemia of the newborn Prolonged jaundice, lethargy
Tyrosinemia caused by a liver disease Liver dysfunction, and prolonged jaundice.
Maple syrup urine disease Poor feeding, vomiting, lethargy, and developmental delays. If untreated, may lead to seizures, coma, and death.
N-acetylglutamate synthase deficiency Lethargic, poor feeding, and a poorly controlled breathing rate or body temperature. May also experience seizures, unusual body movements, and go into coma.
Carbamylphosphate synthetase deficiency Unusual sleepiness, a poorly controlled breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, and coma.
Ornithine transcarbamylase deficiency Lethargic, poor feeding, and a poorly controlled breathing rate or body temperature. May also experience seizures, unusual body movements, and go into coma.
Citrullinemia (argninosuccinate synthase deficiency) Lethargy, poor feeding, vomiting, seizures, and loss of consciousness. Life-threatening in many cases.
Citrullinemia type II (citrin deficiency) Causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. 
Argininosuccinic acidemia Lethargic, poor feeding, and a poorly controlled breathing rate or body temperature. May also experience seizures, unusual body movements, and go into coma.
Argininuria Stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity), developmental delays, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia).
Hypermethioninuria (MAT I/III deficiency) Intellectual disability, neurological problems, delays in motor skills such as standing or walking, sluggishness, muscle weakness, liver problems, and unusual facial features. Breath, sweat, or urine may have a smell resembling boiled cabbage.
Homocystinuria cystathionine beta-synthase deficiency Myopia, increased risk of abnormal blood clotting, brittle bones that are prone to fracture (osteoporosis), and other skeletal abnormalities.
Alkaptonuria Typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. 
Tada syndrome Dwarfism, mental defect, abnormal sensitivity to light, and deviation from normal walking (gait abnormalities).
Encephalopathy due to hydroxykynureninuria Psychomotor retardation, nonprogressive brain disease, too much muscle tone (hypertonia), headaches, and stereotyped gestures.
Valinemia Vomiting, failure to thrive, intellectual disability, and fatigue.
Hyperleucine-isoleucinemia Seizures, failure to thrive, and intellectual disability.
Dihydrolipoyl dehydrogenase(E3) deficiency Burnt sugar smell to urine and body, developmental delays, and weak muscle tone (hypotonia) during infancy.
Beta-hydroxyisobutyryl CoA deacylase deficiency Unusual facial features, and multiple vertebral anomalies.
Histidinuria Intellectual disability, behavioral problems, and learning disorders.
Hartnup syndrome Increased sensitivity of the skin to sunlight, difficulty with balance and coordination (ataxia), abnormal tensing of the muscles (spasticity), delayed motor development, trembling, headaches, weak muscle tone (hypotonia), anxiety, emotional instability, delusions, hallucinations, and abnormal amount of amino acids in the urine (aminoaciduria).
Lysinuric protein intolerance An enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). May interfere with lung function and can be life-threatening.
Alpha-ketoadipic aciduria Psychomotorically retarded.
Saccharopinuria Intellectual disability, behavioral problems, unusual facial feature, and short stature.
Seizures-intellectual deficit due to hydroxylysinuria Seizures, and intellectual disability.
Cystathioninuria Intellectual disability.
Hyperprolinemia type I Seizures, intellectual disability, and other neurological or psychiatric problems.
Hyperprolinemia type II Seizures, and intellectual disability.
Hyper hydroxyprolinemia Intellectual disability.
2-hydroxyglutaric aciduria Severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. Usually survive only into infancy or early childhood.
Hawkinsinuria Failure to thrive, persistent excessive acid in the body (metabolic acidosis), and fine and sparse hair.
Biotinidase deficiency Seizures, weak muscle tone (hypotonia), breathing problems, and developmental delays. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, difficulty with balance and coordination (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis.
Fumarate hydratase deficiency Poor feeding, failure to thrive, weak muscle tone (hypotonia), lethargy, and seizures. Most affected individuals are non-verbal and non-ambulatory, and many die during early childhood.
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Poor feeding, vomiting, lethargy, low temperature, and rapid breathing
NameSymptoms
Classic galactosemia Poor feeding, lethargy, failure to thrive, jaundice, liver damage, and bleeding.
Galactokinase deficiency Cataracts, and liver damage
Galactose epimerase deficiency Cataracts, developmental delays, intellectual disability, liver disease, and kidney problems.
Transient galactosemia Abnormal liver functions, and failure to thrive.
D-glyceric aciduria Brain disease, chronic persistent excessive acid in the body (metabolic acidosis), seizures, severe intellectual disability, small head size (microcephaly), and speech delay.
Fructose-1, 6-Diphosphatase Deficiency Low levels of blood sugar (hypoglycemia), life-threatening buildup of lactic acid (lactic acidosis), present of ketone bodies in the urine (ketonuria), hyperventilation, convulsions, coma, and mild enlarged liver (hepatomegaly).
Endogenous sucrosuria Intellectual disability.
Lactose intolerance Severe diarrhea, severe dehydration, and weight loss.
NameSymptoms
Short-chain acyl-CoA dehydrogenase deficiency Vomiting, low levels of blood sugar (hypoglycemia), lethargy, and failure to thrive.
Medium-chain acyl-CoA dehydrogenase deficiency Vomiting, lethargy, and low levels of blood sugar (hypoglycemia).
At risk for serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
Medium/short-chain L-3-OH acyl-CoA DH deficiency Poor appetite, vomiting, diarrhea, lethargy, weak muscle tone (hypotonia), liver problems,  low levels of blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). At risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. 
Long-chain 3-OH acyl-CoA dehydrogenase deficiency Feeding difficulties, muscle weakness (hypotonia), low levels of blood sugar (hypoglycemia), muscle pain, and breakdown of muscle tissue. At risk for serious heart problems, breathing difficulties, coma, and sudden death.
Ethylmalonic encephalopathy Progressively developmental delays, weak muscle tone (hypotonia), seizures, and abnormal movements.
Dicarboxylic aciduria Low levels of blood sugar (hypoglycemia).
NameSymptoms
Zellweger syndrome Weak muscle tone (hypotonia), feeding problems, hearing loss, vision loss, and seizures. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead, and typically do not survive beyond the first year of life.
Neonatal adrenoleukodystrophy Weak muscle tone (hypotonia), vision problems, hearing loss, liver dysfunction, developmental delays, and some degree of intellectual disability.
Infantile Refsum disease Weak muscle tone (hypotonia), vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability.
Zellweger-like syndrome Distinctive facial features, including a flattened face, broad nasal bridge, and high forehead, profound weak muscle tone (hypotonia), intellectual deficit, and metabolic anomalies.
Primary Hyperoxaluria Failure to thrive, elevated calcium levels in the body (nephrocalcinosis), decrease number of red blood cells (anemia), and persistent excessive acid in the body (metabolic acidosis).
NameSymptoms
Adenosine deaminase deficiency Pneumonia, chronic diarrhea, widespread skin rashes and developmental delays. Without treatment, these babies usually do not survive past age 2.
Lesch-Nyhan syndrome Abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus), and self-injury (including biting and head banging).
Kelley-Seegmiller syndrome Presence of orange crystals in diapers. Urinary infections, and renal obstruction. Gout may appear after puberty.
Adenine phosphoribosyltransferase deficiency  Recurrent kidney stones and urinary tract stones. 
Hereditary xanthinuria Urinary tract infection, presence of red blood cells in the urine (hematuria), kidney stones, acute renal failure, crystals in urine (crystalluria), and urinary tract stones.
Orotic aciduria Physical and intellectual disability.
Dihydropyrimidine dehydrogenase deficiency Recurrent seizures (epilepsy), intellectual disability, small head size (microcephaly), increased muscle tone (hypertonia), delayed development of motor skills such as walking, and autistic behaviors that affect communication and social interaction. Vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer.
Dihydropyrimidinase deficiency Neurologic abnormalities
Beta-ureidopropionase deficiency Severe neurologic involvement with intellectual disability and seizures
NameSymptoms
Hyperglycinuria Failure to thrive
Sarcosinuria Intellectual disability, growth failure, enlarged liver (hepatomegaly), abnormal skull shape (craniosynostosis), conjoined fingers, and weakened and enlarged heart (dilated cardiomyopathy).
Imidazole aminoaciduria Developmental delays.
Formiminoglutamic aciduria Developmental delays.
Carnosinuria Intellectual disability, seizures and congenital muscular disease.
Canavan disease Problems with development, including a delay in motor skills such as turning over, controlling head movement, and sitting without support.

Typically also have weak muscle tone (hypotonia), unusually large head size (macrocephaly), abnormal posture, intellectual disability, feeding and swallowing difficulties, seizures, and sleep disturbances.
Glutathione synthetase deficiency Seizures, generalized slowing down of physical reactions, movements, and speech, intellectual disability, and a loss of coordination (ataxia).
Gamma-glutamyl transpeptidase deficiency Abnormal breakdown of red blood cells.
Succinic semialdehyde dehydrogenase deficiency Developmental delays, intellectual disability, and weak muscle tone (hypotonia).
Hyperpipecolatemia Intellectual disability, weak muscle tone (hypotonia), and  abnormalities in the brain structure (Joubert's syndrome).
Neonatal intrahepatic cholestasis caused by citrin deficiency Liver dysfunction.
Beta-aminoisobutyric aciduria Neurological impairment.
NameSymptoms
Pyruvate dehydrogenase e1-beta deficiency Delayed development of mental abilities and motor abilities and other neurological problems such as intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination and difficulty walking. Potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat.
Pyruvate dehydrogenase phosphatase deficiency Exercise intolerance, and mild developmental delays.
Pyruvate carboxylase deficiency Developmental delays, and life-threatening buildup of lactic acid (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing.
Pyruvate decarboxylase deficiency Life-threatening buildup of lactic acid (lactic acidosis), poor feeding, lethargy, developmental delays, weak muscle tone (hypotonia), seizures, difficulty with balance and coordination (ataxia), and tensing of various muscles (dystonia).
Leigh syndrome Psychomotor regression.
Typically results in death within a couple of years, usually due to respiratory failure.
Cytochrome c oxidase deficiency Muscle weakness, weak muscle tone (hypotonia), severe brain dysfunction, heart disease, liver failure, life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea and an irregular heart rate.
De Toni-Debré-Fanconi syndrome Polyuria (excessive urination), polydipsia (excessive thirst), enuresis (uncontrollable urination), vomitting, and seizures.

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Contacts

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    India 743503
  •   Customer Service: +91 98301 66200
  • Toll Free Hotline: 1800 419 6200 10.00 A.M. to 6.30 P.M.
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