Phenylketonuria
An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.
Disease Alternative Name
Recent Cases of Phenylketonuria
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Top doctors who continously share their opinions on PhenylketonuriaNational Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
Super Specialist in Reproductive Endocrinology
Index Medical College
Professor & Hod
MGM Medical College, Indore
MBBS,MS ( ANATOMY)
Self Emploid(private Clinic)
Morbi
Shri M P Shah Medical College Jamnagar
M B B S
Rainbow New Life Hospital
Medical Officer
Apex Institute of Medical Sciences
BIM&T
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Trending Cases
Which of the drugs do you recommend for symptomatic management of fever and pain in children?
Doc Insights10 Likes27 AnswersPlease share your overall clinical experience with the Ibuprofen + Paracetamol combination in treating Paediatric Fever and pain?
Doc Insights3 Likes9 Answers- Login to View the image
Oral cancer is ravaging India’s workforce. A first-of-its-kind study by Tata memorial maps how we have lost a productive workforce, with most patients succumbing to the disease in their early 40s. Sharing short summary of the study and why India needs early screening, diagnosis of Oral cancer in the community.
Medi Facts3 Likes5 Answers - Login to View the image
A 57 yrs old male patient c/o sudden vision loss/left side weakness/agitated/fever bodyache *Chief Complaints* Sudden vision loss Left side weakness Unable to walk Agitated urge to pee/poop but nothing comes out when he go Bodyache *History* CVA with left hemisphere 3 yrs back K/c/o HTN/DM *Vitals* BP 150/80 Pulse 68 Spo2 98 *Physical Examination* B/L Pupils dilated Left side weakness Chest -B/L clear P/A- soft no any tenderness or distension CNS -Alert and aware Genitals -Normal *Investigations* Attached *Diagnosis* CVA with HTN/DM ?TIA/Retinal detachment *Management* Medically conservative Kindly suggest
Dr. Manoj Kumar0 Like3 Answers A 29-year-old male presents with chronic low back pain and stiffness, which worsens at rest and improves with activity. He reports morning stiffness lasting more than 30 minutes. Physical examination reveals limited spinal mobility, especially in the lumbar region, and decreased chest expansion. Laboratory tests show elevated inflammatory markers. What is the most likely diagnosis?
Dr. Veenu Yadav3 Likes3 Answers
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