Phenylketonuria

•

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Newborn Screening KW

neonatal screening for pKU

Health & Medicine

Autosomal recessive
Newborn screening markers
Phenylalanine > 120 uMl/L
Phe/Tyr > 2
Measured by tandem mass spectrometry
Designed by: Dr.Amir Abdelazim
Treatment

What's hot

Neuroendocrine emergencies

NeurologyKota

Adrenal gland physiology

Navneet Randhawa

ADH

Harith Riyadh

Adrenal medullary hormones By Abdul Qahar

Abdul Qahar {{Abdul Wali Khan University Mardan}} (Buner Campus)

Myasthenia Gravis

ph33sha9008

Hypothalamus pituitary axis

Dr Sara Sadiq

Porphyrias

subramaniam sethupathy

myotonic dystrophy

NALAM GEETANJALI

Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.

ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS

Mordecai Godstime

Menkes disease and neural effects

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Myeloma

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Histidine metabolism

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Urea cycle defects

Pediatrics

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farranajwa

Phenylketonuria (PKU)

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Rohit Paswan

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Al-Shifa College of Paramedical Science,Perinthalmanna

What's hot (20)

Neuroendocrine emergencies

Adrenal gland physiology

ADH

Adrenal medullary hormones By Abdul Qahar

Myasthenia Gravis

Hypothalamus pituitary axis

Porphyrias

myotonic dystrophy

ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS

Menkes disease and neural effects

Myeloma

Disorders of the neuromuscular junction

Histidine metabolism

Urea cycle defects

Iron metabolism

Lysosomal storage disorders

Urea cycle and disorder

Phenylketonuria (PKU)

Adrenal Gland

10.2 mitochondrial diseases.pptx

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