2006 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Disorders Of Amino-Acid Transport And Metabolism 270.* > 2006 ICD-9-CM Diagnosis 270.2 Other disturbances of aromatic amino-acid metabolism View the most recent version of ICD-9-CM 270.2 An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. 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. A disease in which the metabolic products of phenylalanine and tyrosine accumulate, resulting in the deposition of HOMOGENTISIC ACID (a brown-black pigment) in the connective tissue. It occurs in ALKAPTONURIA, but has also been observed in connection with exposure to certain chemicals (e.g., phenol, trinitrophenol, benzene derivatives). 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. 270.2 is a specific code that can be used to specify a diagnosis 270.2 contains 45 index entries View the ICD-9-CM Volume 1 270.* hierarchy Alternate Terminology Albinism Alkaptonuria Alkaptonuric ochronosis Disturbances of metabolism of tyrosine and tryptophan Homogentisic acid defects Hydroxykynureninuria Hypertyrosinemia Indicanuria Kynureninase defects Oasthouse urine disease Ochronosis Tyrosinosis Tyrosinuria Waardenburg syndrome 270.2 Excludes vitamin B6-deficiency syndrome (266.1)  Index entries containing 270.2: Achromia congenital 270.2 Albinism, albino (choroid) (cutaneous) (eye) (generalized) (isolated) (ocular) (oculocutaneous) (partial) 270.2 Albinismus 270.2 Alcaptonuria 270.2 Alkaptonuria 270.2 Defect, defective 759.9 homogentisic acid 270.2 kynureninase 270.2 Deficiency, deficient homogentisic acid oxidase 270.2 Disease, diseased - see also Syndrome oasthouse, urine 270.2 Smith-Strang (oasthouse urine) 270.2 Disorder - see also Disease amino acid (metabolic) (see also Disturbance, metabolism, amino acid) 270.9 albinism 270.2 alkaptonuria 270.2 oasthouse urine disease 270.2 ochronosis 270.2 metabolism NEC 277.9 alkaptonuria 270.2 Disturbance - see also Disease metabolism (acquired) (congenital) (see also Disorder, metabolism) 277.9 amino acid (see also Disorder, amino acid) 270.9 aromatic NEC 270.2 tryptophan 270.2 tyrosine 270.2 Hydroxykynureninuria 270.2 Hypertyrosinemia 270.2 Indicanuria 270.2 Klein-Waardenburg syndrome (ptosis-epicanthus) 270.2 Leukasmus 270.2 Mende's syndrome (ptosis-epicanthus) 270.2 Oasthouse urine disease 270.2 Ochronosis (alkaptonuric) (congenital) (endogenous) 270.2 with chloasma of eyelid 270.2 Osteoarthrosis (degenerative) (hypertrophic) (rheumatoid) 715.9 Deformans alkaptonurica 270.2 Ptosis (adiposa) 374.30 epicanthus syndrome 270.2 Smith-Strang disease (oasthouse urine) 270.2 Syndrome - see also Disease embryonic fixation 270.2 Klein-Waardenburg (ptosis-epicanthus) 270.2 Mende's (ptosis-epicanthus) 270.2 ptosis-epicanthus 270.2 van der Hoeve-Halbertsma-Waardenburg (ptosis-epicanthus) 270.2 van der Hoeve-Waarderburg-Gualdi (ptosis-epicanthus) 270.2 Waardenburg-Klein (ptosis epicanthus) 270.2 Tyrosinemia 270.2 neonatal Tyrosinosis (Medes) (Sakai) 270.2 Tyrosinuria 270.2 Tyrosyluria 270.2 van der Hoeve-Halbertsma-Waardenburg syndrome (ptosis-epicanthus) 270.2 van der Hoeve-Waardenburg-Gualdi syndrome (ptosis-epicanthus) 270.2 Waardenburg's syndrome 756.89 meaning ptosis-epicanthus 270.2 Waardenburg-Klein syndrome (ptosis-epicanthus) 270.2