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LMSSIO

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid, due to a deficiency in the enzyme phenylalanine hydroxylase (PAH). This leads to an accumulation of phenylalanine in the blood and brain, which can result in severe neurological and developmental issues.

IRI: http://lmss.sali.org/RjkNX8mCEMI552iA5M6SQ7
Branch: Legal Entity
Source: https://www.ssa.gov/disability/professionals/bluebook/10.00-

Also known as

Phenylalanine Hydroxylase Deficiency, PKU

Ancestry path

Legal Entity Individual Person Characteristics Disability Physical Disability Congenital Disorders that Affect Multiple Body Systems

Generated from sali-legal/LMSS at 3f9ac0c9357b (2026-03-10). JSON