Disorders of aromatic amino-acid metabolism (E70)
Clinical Information
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Waardenburg Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Endocrine, nutritional and metabolic diseases (E00–E89)
Metabolic disorders (E70-E88)
E70 Disorders of aromatic amino-acid metabolism
- E70.0 Classical phenylketonuria
- E70.1 Other hyperphenylalaninemias
E70.2 Disorders of tyrosine metabolism
- E70.20 Disorder of tyrosine metabolism, unspecified
- E70.21 Tyrosinemia
- E70.29 Other disorders of tyrosine metabolism
E70.3 Albinism
- E70.30 Albinism, unspecified
E70.31 Ocular albinism
- E70.310 X-linked ocular albinism
- E70.311 Autosomal recessive ocular albinism
- E70.318 Other ocular albinism
- E70.319 Ocular albinism, unspecified
E70.32 Oculocutaneous albinism
- E70.320 Tyrosinase negative oculocutaneous albinism
- E70.321 Tyrosinase positive oculocutaneous albinism
- E70.328 Other oculocutaneous albinism
- E70.329 Oculocutaneous albinism, unspecified
E70.33 Albinism with hematologic abnormality
- E70.330 Chediak-Higashi syndrome
- E70.331 Hermansky-Pudlak syndrome
- E70.338 Other albinism with hematologic abnormality
- E70.339 Albinism with hematologic abnormality, unspecified
- E70.39 Other specified albinism
E70.4 Disorders of histidine metabolism
- E70.40 Disorders of histidine metabolism, unspecified
- E70.41 Histidinemia
- E70.49 Other disorders of histidine metabolism
- E70.5 Disorders of tryptophan metabolism
E70.8 Other disorders of aromatic amino-acid metabolism
- E70.81 Aromatic L-amino acid decarboxylase deficiency
- E70.89 Other disorders of aromatic amino-acid metabolism
- E70.9 Disorder of aromatic amino-acid metabolism, unspecified
Disorders of aromatic amino-acid metabolism (E70)