Conditions Overview

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®. Below is a complete list of the metabolic disorders that will be tested and can be detected with Metascreen®.

Acid and organic acid metabolism disorders

Name

Signs and symptoms

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. Typical features include an unusually small, elongated head.

Glyceroluria

Developmental delays.

Phenylketonuria (phenylalanine hydroxylase deficiency)

Permanent intellectual disability, seizures, developmental delays, behavioral problems, and psychiatric disorders

Hyperphenylalaninuria (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.

Tyrosinuria type I (hepatorenal  tyrosinuria )

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.

Tyrosinuria type II (oculocutaneous tyrosinuria )

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.

Tyrosinuria type III (4-hydroxyphenylpyruvate dioxygenase def.)

Intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).

Transient tyrosinuria of the newborn

Prolonged jaundice, lethargy

Tyrosinuria 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

This disorder leads to an accumulation of ammonia in the blood leading to toxic effects including vomiting, lack of coordination, confusion or 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. Affected individuals may also experience seizures, unusual body movements, and go into coma.

Citrullinuria (argninosuccinate synthase deficiency)

Lethargy, poor feeding, vomiting, seizures, and loss of consciousness. Life-threatening in many cases.

Citrullinuria type II (citrin deficiency)

Causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma.

Argininosuccinic aciduria

Lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a 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.

Valinuria

Vomiting, failure to thrive, intellectual disability, and fatigue.

Hyperleucine-isoleucinuria

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). Lung function may be affected and can be life-threatening.

Alpha-ketoadipic aciduria

Psychomotorically retarded.

Saccharopinuria

Intellectual disability, behavioural problems, unusual facial feature, and short stature.

Seizures-intellectual deficit due to hydroxylysinuria

Seizures, and intellectual disability.

Cystathioninuria

Intellectual disability.

Hyperprolinuria type I

Seizures, intellectual disability, and other neurological or psychiatric problems.

Hyperprolinuria type II

Seizures, and intellectual disability.

Hyper hyperprolinuria

Intellectual disability.

2-hydroxyglutaric aciduria

Severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. Afflicted individuals 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.

Hyperornithinuria-Hyperammonuria-Homocitrullinuria Syndrome

Poor feeding, vomiting, lethargy, low temperature, and rapid breathing

Sugar metabolism disorders
Fatty acid metabolism disorders
Peroxisomal disorders
Purine & pyrimidine metabolism disorders
Lactic acid, hyperpyruvic acid metabolic disorders
Other IEMs
For more information about the conditions, please visit the following websites:
American College of Medical Genetics and Genomics
Genetics Home Reference
Online Mendelian Inheritance in Man
Orphanet
PubMed

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Singapore 768160

Email
metascreen@cordlifetech.com