Krabbe Disease
Krabbe disease, or Globoid Cell
Leukodystrophy, is an autosomal recessive neurodegenerative disorder
caused by a lack of the lysosomal enzyme galactocerebrosidase. The
infantile presentation is the most frequent.
Congenital adrenal hyperplasia
In CAH lack of an enzyme may cause shock or death in infants because the kidneys lose too much salt. Newborn girls may be incorrectly identified as boys. Treatment is with steroids and special minerals to replace lost salt. Occurs in about 1 of every 15,000 newborns.
Congenital
hypothyroidism
Inadequate production of a hormone (thyroxine) can lead to mental and growth retardation. It is treated with thyroxine tablets. Occurs in about 1 of every 2,200 newborns.
Sickle
cell anemia
A disorder of the hemoglobin (oxygen-carrying part) of red blood cells. Children with sickle cell disease have a high risk of developing infections or anemia at an early age so medical care is necessary. Occurs in about 1 of every 1,800 newborns, with a higher frequency in African-Americans. Infants with other abnormal hemoglobins may also be detected by newborn screening.
HIV
HIV is the virus that causes AIDS. The test checks the infant's blood for the presence of HIV antibodies. If a baby has HIV antibodies, the mother is infected with HIV. In all positive cases, the baby has been exposed to the virus. HIV-exposed newborns need repeat testing to see if they are infected. Their mothers also need special medical care.
Homocystinuria
In HCY lack of an enzyme in the liver can produce mental retardation and eye and circulation problems. It is treated with a special diet. Occurs in about 1 of every 391,000 newborns.
Hypermethioninemia
HMET causes delayed movement development with muscle weakness that leads to death. Treatment includes a special diet with special formula. It is not known how many newborns have this condition.
Branched-chain
ketonuria (Maple Syrup Disease)
This is called maple syrup urine disease (MSUD) because the urine smells like maple syrup. A person with MSUD cannot break down some food proteins because they are missing a certain enzyme. Treatment with a special diet can prevent life-threatening complications. Occurs in about 1 of every 270,000 newborns.
Phenylketonuria
In PKU a kind of food protein (phenylalanine) cannot be broken down by the body due to lack of an enzyme. Brain damage, which would normally result, can be prevented by a special diet low in phenylalanine. Occurs in about 1 of every 19,000 newborns
Tyrosinemia
Infants with TYR develop liver, heart and movement problems. Treatment is very complicated and includes diet and a special formula. Since liver damage begins before birth, liver transplant is recommended if possible before the baby is two years old. TYR occurs in about 1 of every 250,000 newborns.
Carnitine-acylcarnitine
translocase deficiency
Babies with CAT can have low blood sugar and heart and liver problems which may lead to coma, liver damage and death during common illnesses such as colds and flu. Children with CAT should avoid certain foods, get special formulas, eat small meals often and get treated in the hospital if they get sick. It is not known how many newborns have this condition.
Carnitine
palmitoyltransferase I deficiency
Classic infant CPT-I causes low blood sugar, sleepiness, vomiting and seizures, which can lead to coma and death. Treatment includes frequent feeding, especially during common illnesses such as colds and flu, and not eating certain foods. Special formulas are often given. It is not known how many newborns have this condition.
Carnitine
palmitoyltransferase II deficiency
Classic CPT-II in older people causes muscle weakness and pain during fasting, illness or prolonged exercise. Neonatal CPT-II causes coma, seizures, unsteady heartbeats, muscle weakness and death. Treatment includes a high-carbohydrate, low-fat diet with special formulas and treatment in the hospital if a child gets sick. It is not known how many newborns have this condition.
Carnitine
uptake defect
CUD can be very different in each child, but it can result in vomiting, confusion, coma, and death. It is a cause of sudden infant death. Children who do not get sick in infancy can develop large hearts and muscle weakness. It is not known how many newborns have this condition.
2,4-Dienoyl-CoA reductase deficiency
2,4Di causes muscle weakness and death despite treatment. It is not known how many newborns have this condition.
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Long-chain hydroxyacyl-CoA
dehydrogenase deficiency
LCHAD causes many different problems in the heart, liver, and lungs.
It can vary from a severe infant form which causes death to a mild
form in childhood which causes muscle weakness and loss of vision.
Treatment includes avoidance of certain foods and addition of others.
During
the pregnancy with affected babies, the woman
may develop complications. It is not known how many newborns have
this condition.
Medium-chain
acyl-CoA dehydrogenase deficiency
MCAD is caused by the lack of an enzyme that breaks down fats into
sugars. This is important when a baby is not eating properly. The baby
with MCAD can go into shock or die very suddenly. Treatment is making
sure the baby eats on a very regular schedule, even if sick. If the
baby does not eat, glucose may be given in the hospital. Occurs in
about 1 of every 23,000 newborns.
Medium-chain
ketoacyl-CoA thiolase deficiency
MCKAT causes vomiting, dehydration, problems with the acid-base balance
in the blood, and liver problems. Effective treatment and incidence
in the newborn population are unknown.
Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency
M/SCHAD can cause low blood sugar if the infant does not eat regularly.
Treatment includes giving glucose during an illness. It is not known
how many newborns have this condition.
Mitochondrial
trifunctional protein deficiency
TFP causes poor muscle tone, failure to thrive and feeding problems
leading to low blood sugar. Death may be caused by liver, heart or
respiratory failure. Treatment includes avoidance of certain foods,
adding a special formula and being sure that the baby eats regularly.
It is not known how many newborns have this condition.
Multiple acyl-CoA dehydrogenase deficiency
MADD, also known as glutaric acidemia type II (GA-II), has three common
forms. The two infant forms present with problems with the acid-base
balance in the blood, which may lead to death. One of the neonatal
forms includes congenital anomalies. Effective treatment for these
forms has not yet been determined. The other form is different in each
child and may include low blood sugar and liver problems. Treatment
of the late onset form includes diet, special formulas and regular
feeding. It is not known how many newborns have this condition.
Short-chain
acyl-CoA dehydrogenase deficiency
Infants with SCAD may have seizures, breathing problems, problems
with the acid-base balance in the blood, poor feeding, vomiting or
failure to thrive. Treatment includes diet and special formulas. Occurs
in 1 of every 40,000 - 100,000 newborns.
Very long-chain acyl-CoA dehydrogenase deficiency
About half of all infants with VLCAD develop low blood sugar, and
liver and heart problems, which often result in death. Others may not
get sick unless they are not eating regularly and then there may or
may not be liver or heart problems. Treatment includes a high carbohydrate,
low fat diet, special formula, regular feeding and avoiding strenuous
exercise. It is not known how many newborns have this condition.
Cobalamin A,B cofactor deficiency
Cobalamin C,D cofactor deficiency
Glutaric acidemia type I
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric
acidemia
Malonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylglutaconic acidemia
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Methylmalonyl-CoA mutase deficiency
Mitochondrial
acetoacetyl-CoA thiolase deficiency
Multiple
carboxylase deficiency
Propionic
acidemia
Argininemia
Argininosuccinic
acidemia
Citrullinemia
Hyperammonemia/hyperornithinemia/homocitrullinemia
Biotinidase
deficiency
Cystic
fibrosis
Galactosemia
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