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

Classic galactosenuria

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 galactosenuria

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.

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).

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), decreased number of red blood cells (anemia), and persistent excessive acid in the body (metabolic acidosis).

Adenosine deaminase deficiency

Pneumonia, chronic diarrhoea, widespread skin rashes and developmental delays. Without treatment, these affected 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

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 build-up 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 build-up 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 build-up 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 that 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 build-up 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), vomiting, and seizures.

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.

Affected individuals 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).

hyperpipecolaturia

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.