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Episodio – BH4 y convulsiones refractarias: cuando “PKU” también es déficit de neurotransmisores | USMLE Step 1 episode artwork

EPISODE · Dec 18, 2025 · 5 MIN

Episodio – BH4 y convulsiones refractarias: cuando “PKU” también es déficit de neurotransmisores | USMLE Step 1

from USMLE DREAMERS · host USMLE DREAMERS

Lactante de 9 meses con retraso del desarrollo severo, microcefalia, convulsiones refractarias e hipopigmentación difusa. En este episodio explicamos cómo el déficit de tetrahidrobiopterina (BH4, tetrahydrobiopterin) causa hiperfenilalaninemia tipo PKU (phenylketonuria) y además disminuye catecolaminas y serotonina por bloqueo de hidroxilasas clave. Integramos la clínica con la vía metabólica para identificar el enzima directamente afectado.#USMLEDreamers #USMLEStep1 #Bioquímica #Metabolismo #BH4 #PKU #Neurotransmisores #Catecolaminas #Serotonina

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Episodio – BH4 y convulsiones refractarias: cuando “PKU” también es déficit de neurotransmisores | USMLE Step 1

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