Phenylketonuria (PKU) Clinical Manifestations

Study Notes

Phenylketonuria (PKU)

Musty or "mousy" odor of the urine is a clinical manifestation of PKU
Fair skin, light blonde hair, and blue eyes are common physical characteristics
Delayed growth and intellectual disability can occur if left untreated
Seizure disorders, muscular hypertonicity, and spasticity are common comorbidities
Eczema (atopic dermatitis) is a common skin condition in PKU patients

Diagnosis and Management of PKU

Newborn screening is essential to prevent cognitive impairment
Guthrie test measures phenylalanine levels in infant's blood
Recombinant DNA techniques can be used for carrier detection and prenatal diagnosis
Phenylalanine-free formulas and dietary restrictions are used to manage PKU

β-Thalassemia

Characterized by defective synthesis of hemoglobin
Inherited blood disorder with reduced beta globin production
Can be classified into beta thalassemia trait (mild anemia), intermedia (moderately severe anemia), and major (life-threatening anemia)

Diagnosis and Management of β-Thalassemia

Diagnosis can be challenging due to varying severity of symptoms
Beta thalassemia trait requires no medical treatment, while intermedia and major require blood transfusions and medical care
Gene defect is more common in certain ethnic groups (Greek, Italian, Middle Eastern, Asian, and African)
Regular blood transfusions and genetic counseling are essential for management

Leukemia

Distorted and uncontrolled proliferation of white blood cells (leukocytes)
Most frequent type of cancer in children
Acute lymphocytic leukemia (ALL) accounts for 75% of leukemias, involving lymphoblasts or immature lymphocytes

Assessment of Leukemia

Pallor, low-grade fever, lethargy, petechiae, and bleeding from oral mucous membranes are common symptoms
Abdominal pain, vomiting, anorexia, bone and joint pain, headache, and swelling of lymph nodes may occur
Leukocyte count is markedly elevated or composed of immature blast cells

Description

This quiz covers the symptoms and characteristics of Phenylketonuria, a genetic disorder that affects brain development and skin appearance. It includes signs such as a musty odor in the urine, fair skin, and intellectual disability if left untreated. Learn about the clinical manifestations of PKU and its effects on the body.