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 |