Category: E70 - Disorders of aromatic amino-acid metabolism
Chapter Notes
Section Notes
Disorders of aromatic amino-acid metabolism
Classical phenylketonuria
Other hyperphenylalaninemias
Disorders of tyrosine metabolism
transitory tyrosinemia of newborn (P74.5)
Disorder of tyrosine metabolism, unspecified
Tyrosinemia
Hypertyrosinemia
Other disorders of tyrosine metabolism
Alkaptonuria
Ochronosis
Albinism
Albinism, unspecified
Ocular albinism
X-linked ocular albinism
Autosomal recessive ocular albinism
Other ocular albinism
Ocular albinism, unspecified
Oculocutaneous albinism
Chediak-Higashi syndrome (E70.330)
Hermansky-Pudlak syndrome (E70.331)
Tyrosinase negative oculocutaneous albinism
Albinism I
Oculocutaneous albinism ty-neg
Tyrosinase positive oculocutaneous albinism
Albinism II
Oculocutaneous albinism ty-pos
Other oculocutaneous albinism
Cross syndrome
Oculocutaneous albinism, unspecified
Albinism with hematologic abnormality
Chediak-Higashi syndrome
Hermansky-Pudlak syndrome
Other albinism with hematologic abnormality
Albinism with hematologic abnormality, unspecified
Other specified albinism
Piebaldism
Disorders of histidine metabolism
Disorders of histidine metabolism, unspecified
Histidinemia
Other disorders of histidine metabolism
Disorders of tryptophan metabolism
Other disorders of aromatic amino-acid metabolism
Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
Disorder of aromatic amino-acid metabolism, unspecified
