Diseases
Amino Acid Disorders
Description: Amino Acid Disorders are caused by the body’s inability to breakdown or metabolize certain amino acids in proteins, or by the inability to detoxify the by-product of amino acids (ammonia) through the urea cycle.
Effect: The buildup of amino acids and/or by-products of amino acid metabolism in the blood cause severe medical complications. The presentation of the various aminoacidopathies varies from no obvious clinical symptoms for months (phenylketonuria), to acute encephalopathy (maple syrup urine disease, ornithin carbamoyl phosphatase deficiency) within days following birth. In each of these disorders, the lack of early identification and treatment may result in serious medical consequences, including mental retardation, developmental delays, failure to thrive, and/or death. Amino acid disorders are autosomal recessive.
Phenylketonuria (PKU) – secondary to phenylalanine hydroxylase deficiency or tetrahydrobiopterin (cofactor of phenylalanine hydroxylase) defects
Description: PKU is a rare inherited metabolic disease that is characterized by levels of the amino acid phenylalanine.
Effect: If left untreated, excess levels of phenylalanine can cause mental retardation, seizures, movement disorders, and other serious health problems. The earlier these children are diagnosed and treated, the less risk of permanent damage.
Treatment depending on the type
- Tetrahydrobioptenn
- Levo-dopa
- 5-Hydroxytryptophan
- Therapy
- Anticonvulsants
| Longevity w/out meds: | reach adulthood but become mentally retarded if not diet restricted by 3 weeks. |
|---|---|
| Prevalence: | Worldwide – 1 : 10-20,000 USA – 1:15,00-25,000 Philippines – 1:102,000 |
Maple Syrup Urine Desease (MSUD)
Description: MAPLE SYRUP URINE DISORDER (MSUD) is a metabolic disease that causes branched chain amino acids (leucine, isoleucine, & valine) to accumulate in the body. The disease derives its name from the sweet smell of urine.
Effect: The accumulation of leucine, isoleucine, and valine creates a toxic effect that can lead to brain swelling, neurological damage, and death.
*Treatment: *
- MSUD formula (3 to 4 days per can)
- Plasma Amino Acid test (at least once a month)
- Leucine level (at least once a month)
- Therapy
| Longevity w/o meds: | 7-10days |
|---|---|
| Prevalence: | Worldwide – 1:185,000-225,000 |
Homocystinuria (classic)
Description: is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase.
| Longevity: | Nearly 25% of patients die before age 30 years |
|---|---|
| Prevalence: | Worldwide 1:344,000 |
Tyrosinemia
Description: is a rare genetic disorder that occurs in the body’s metabolism when there is a deficiency in a specific enzyme named fumarylacetoacetate hydrolase.
| Longevity w/out meds: | death secondary to liver failure usually occurs by 2 years of age |
|---|---|
| Prevalence: | Worldwide 1:100,000 |
