74
Treatment
Glycomacropeptide
The cheese whey contains a protein known as glycomacropeptide that have high
amount of essential amino acid except aromatic amino acids [21]. When diet is
prepared for patients, it is ensured that it should be free from phenylalanine and then
glycomacropeptide can be added into it. Studies suggested that diet which contains
glycomacropeptide gives satisfactory results by the patients suffering from
PKU [22].
Tetrahydrobiopterin (BH4)
Patients suffering from mild phenylketonuria have genetic defects in the production
of tetrahydrobiopterin (BH4). Doses of tetrahydrobiopterin increases the activity of
PAH enzyme results in decreased level of blood circulating phenylalanine up to
desire limit [23]. For the treatment of PKU patients, some neurotransmitter precursors like carbidopa and hydroxy-tryptophan are also used [24].
Lysosomal Storage Disorders
Lysosomal storage diseases (LSDs) belong to the inherited disorders of metabolism
and were first described in 1972 [25]. Lysosomes are the cellular organelles that are
involved in the digestion or engulfing of foreign particles (bacteria and viruses) and
catabolic reactions of dead and wastes products of cells like polysaccharides, lipids,
and proteins. There are more than sixty different types of acidic hydrolases including sulfatases, lipases, nucleases, proteases, and phosphatases that are involved in
catabolic reactions. Lysosomal storage diseases are the inborn errors of metabolism
that disrupt the activity of lysosomes [26].
Table 4.3 Classification of phenylketonuria based on phenylalanine concentration in blood
Types of
hyperphenylalaninemia
(HPA)
Phenylalanine (PKU)
concentration in blood
(μmol/L)
Symptoms
Reference
Mild HPA
Less than 600
Intellectual
impairment
[20]
Mild PKU
600–1200
• Seizures,
• Tremors
• Eczema
Classical PKU
Above 1200
Neuropsychiatric
complications
M. Shahid et al.
Treatment
Glycomacropeptide
The cheese whey contains a protein known as glycomacropeptide that have high
amount of essential amino acid except aromatic amino acids [21]. When diet is
prepared for patients, it is ensured that it should be free from phenylalanine and then
glycomacropeptide can be added into it. Studies suggested that diet which contains
glycomacropeptide gives satisfactory results by the patients suffering from
PKU [22].
Tetrahydrobiopterin (BH4)
Patients suffering from mild phenylketonuria have genetic defects in the production
of tetrahydrobiopterin (BH4). Doses of tetrahydrobiopterin increases the activity of
PAH enzyme results in decreased level of blood circulating phenylalanine up to
desire limit [23]. For the treatment of PKU patients, some neurotransmitter precursors like carbidopa and hydroxy-tryptophan are also used [24].
Lysosomal Storage Disorders
Lysosomal storage diseases (LSDs) belong to the inherited disorders of metabolism
and were first described in 1972 [25]. Lysosomes are the cellular organelles that are
involved in the digestion or engulfing of foreign particles (bacteria and viruses) and
catabolic reactions of dead and wastes products of cells like polysaccharides, lipids,
and proteins. There are more than sixty different types of acidic hydrolases including sulfatases, lipases, nucleases, proteases, and phosphatases that are involved in
catabolic reactions. Lysosomal storage diseases are the inborn errors of metabolism
that disrupt the activity of lysosomes [26].
Table 4.3 Classification of phenylketonuria based on phenylalanine concentration in blood
Types of
hyperphenylalaninemia
(HPA)
Phenylalanine (PKU)
concentration in blood
(μmol/L)
Symptoms
Reference
Mild HPA
Less than 600
Intellectual
impairment
[20]
Mild PKU
600–1200
• Seizures,
• Tremors
• Eczema
Classical PKU
Above 1200
Neuropsychiatric
complications
M. Shahid et al.