What are the main symptoms of hyperphenylalaninemia and phenylketonuria?

What are the main symptoms of hyperphenylalaninemia and phenylketonuria?

The symptoms of hyperphenylalaninemia are determined by two different enzymes: phenylalanine hydroxylase and alanine hydroxylase. Newborns who are deficient in phenylalanine hydroxylase and alanine hydroxylase are born without obvious symptoms, but develop symptoms after a few months. Growth retardation in patients with phenylketonuria. Neuropsychiatric and skin-hair symptoms.

Hyperphenylalaninemia is mainly due to an enzyme defect in the phenylalanine metabolic pathway, which increases blood phenylalanine levels. The blood phenylalanine concentration is higher than the blood phenylalanine and tyrosine ratio. Phenylketonuria is a common amino acid metabolic disease, mainly due to enzyme defects in the phenylalanine (p) metabolic pathway, so that phenylalanine cannot be converted into tyrosine, resulting in the accumulation of phenylalanine and its ketoacids. , and is excreted in the urine.

Hyperphenylalaninemia is mostly caused by genetic mutations, but the disease has two different genes and different symptoms.

1. Phenylalanine hydroxylase deficiency.

Patients with Phenylalanine Hydroxylase Deficiency have no obvious symptoms in the neonatal period, but their skin color will gradually lighten 3-4 months after birth. Hair turns yellow, and urine and sweat have a rat odor. With age, patients will gradually develop epilepsy, growth retardation, microcephaly and other symptoms.

2. Alanine hydroxylase deficiency.

Newborn patients with alanine hydroxylase deficiency are also asymptomatic. After 1-3 months of life, skin resembling phenylalanine hydroxylase deficiency develops. Changes in hair color and rat odor in urine. In addition, patients may experience symptoms such as insomnia, dyskinesia, increased salivation, lethargy, and unresponsiveness what is pku.

Phenylketonuria.

1. Growth retardation.

The main manifestation of growth retardation in phenylketonuria is mental retardation. The patient's intelligence will be significantly lower than that of normal children. This usually occurs between 4-9 months. Severe patients have an IQ below 50 and language is severely affected, indicating a developmental disorder of the brain.

2. Neuropsychiatry.

Phenylketonuria suffers from brain atrophy, leading to cerebellar malformations and recurrent convulsions. These symptoms decrease with age, but muscle tone increases. Symptoms of hyperreflexia often present with abnormal behavior.

3. Skin hair.

The patient's skin is often dry and prone to eczema and skin scratching. Due to the inhibition of tyrosinase, the synthesis of melanin is markedly reduced, resulting in a relatively light, brown hair color in patients.

FEATURED HEALTH TOPICS

What causes more hair loss?

What causes more hair loss?It may be a natural component of aging or the outcome of hormonal changes, a medical condition, or hereditary. Anyone can have hair o...

In Australia, what is the duration of a bachelor's degree?

In Australia, what is the duration of a bachelor s degree?Typically, a bachelor s degree takes three years to accomplish. These years offer a lot of variation t...

Is a 3.0 good enough for college?

Is a 3.0 good enough for college?A 3.0 GPA equals a [B] average in school and qualifies you to apply to a variety of schools, therefore definitely! A 3.0 GPA i...

Which Southeast Asian university was the first to open?

Which Southeast Asian university was the first to open?Philippine University of Santo TomasPhilippine University of Santo Tomas...The institution, which is freq...

Mobile Phone Dermatoscope: A Cost-Effective Solution for Skin Lesion Evaluation

In the realm of dermatology, the evaluation of skin lesions is crucial for accurate diagnosis and timely treatment. The emergence of mobile phone dermatoscopy h...

Polarized Dermatoscope: Enhancing Visualization and Diagnostic Precision in Dermatology

In the field of dermatology, accurate visualization of skin lesions is crucial for diagnosis and treatment planning. polarized dermatoscope, a specialized diagn...

Psychological Counseling Brings Mental Health and Contributes to the Building of a Harmonious Society

With the rapid pace of development of life, many people will have the feeling of mental depression, in the subhealth problems highlighted, can not eat or sleep,...

Antiperspirant bad side effects know more antiperspirant Hong Kong Consumer Council recommend what products

Antiperspirants and deodorant products are a must-have in the summer to get rid of sweat and body odor, but will long-term use of antiperspirants bring a series...

Stress hair loss is too scary, the three strokes effectively improve

In reality, there are many people know what the negative impact of mental stress, many female friends because of excessive stress, the problem of stress hair lo...

Body checkups have many benefits and can detect many problems

Physical examination is quite a normal thing in this era, many people have long accepted from the heart, compared to psychological examination, physical examina...