What is PKU?
Today the first line of therapy for PKU is oftenlow protein foods and a diet low in Phe.
Phenylketonuria (known as PKU) is an inherited metabolic disease affecting the brain through increased levels of a substance called phenylalanine (Phe) in the blood.
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An amino acid, Phe is a building block of protein and is found in all proteins, most foods, and in some artificial sweeteners.
PKU infants in the United States are diagnosed in the first few days of life through the federally mandated Newborn Screening Program.
This is important because the damage caused by toxic levels of Phe in the first few years of life is irreversible.
When treatment is begun early and rigorously adhered to, PKU affected children can expect normal development and lifespan.
What are Allied Disorders?
Today the first line of therapy for Allied Disorders is often low protein foods.
These are really rare genetic metabolic disorders that are detected by newborn screening.
These include Maple Syrup Urine Disease (MSUD), Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine.
Very high levels of these amino acids are harmful.
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Homocystinuria (HCY) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine.
This causes a harmful build-up of substances in the blood and urine.
Methylmalonic Acidemia (MMA) is a disorder in which the body cannot break down certain proteins and fats.
The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families.
Propionic Acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
Fatty acid disorders are a group of inherited metabolic conditions that lead to an accumulation of fatty acids, and a decrease in cell energy metabolism.
What is Renal Disease?
(CKD) Chronic Kidney Disease
A low protein diet (LPD) of 0.6–0.8 g/kg/day is often recommended for the management of CKD.
CKD is a condition in which the kidneys are damaged and cannot filter blood as well as they should.
Because of this, excess fluid and waste from blood remain in the body and may cause other health problems,
such as heart disease and stroke. CKD has varying levels of seriousness.
It usually gets worse over time though treatment has been shown to slow progression.
If left untreated, CKD can progress to kidney failure and early cardiovascular disease.
When the kidneys stop working, dialysis or kidney transplant is needed for survival.
Kidney failure treated with dialysis or kidney transplant is called end-stage renal disease (ESRD)
This is important because the damage caused by toxic levels of Phe in the first few years of life is irreversible.
When treatment is begun early and rigorously adhered to, PKU affected children can expect normal development and lifespan.
What are Allied Disorders?
Today the first line of therapy for Allied Disorders is often low protein foods.
These are really rare genetic metabolic disorders that are detected by newborn screening.
These include Maple Syrup Urine Disease (MSUD), Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine.
Very high levels of these amino acids are harmful.
Homocystinuria (HCY) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine.
This causes a harmful build-up of substances in the blood and urine.
Methylmalonic Acidemia (MMA) is a disorder in which the body cannot break down certain proteins and fats.
The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families.
Propionic Acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
Fatty acid disorders are a group of inherited metabolic conditions that lead to an accumulation of fatty acids, and a decrease in cell energy metabolism.
What is Renal Disease?
(CKD) Chronic Kidney Disease
A low protein diet (LPD) of 0.6–0.8 g/kg/day is often recommended for the management of CKD.
CKD is a condition in which the kidneys are damaged and cannot filter blood as well as they should.
Because of this, excess fluid and waste from blood remain in the body and may cause other health problems,
such as heart disease and stroke. CKD has varying levels of seriousness.
It usually gets worse over time though treatment has been shown to slow progression.
If left untreated, CKD can progress to kidney failure and early cardiovascular disease.
When the kidneys stop working, dialysis or kidney transplant is needed for survival.
Kidney failure treated with dialysis or kidney transplant is called end-stage renal disease (ESRD)
