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Click to edit Master title style,*,Click to edit Master text styles,Second level,Third level,Fourth level,Fifth level,Presentation to the ICD-9-CM Coordination and Maintenance Committee,Dr. MG Blitzer on behalf of the American College of Medical Genetics,12/5/2003,1,Metabolic Disorders,Over the last decade, our understanding, diagnostic ability and treatment options for inherited metabolic disease has increased markedly.,Several groups of potentially treatable disorders identified that are not uncommon:,Fatty Acid Oxidation disorders,Peroxisomal disorders,Mitochondrial disorders,2,Rationale for New Codes,New disorders are now recognized that, in aggregate, are not uncommon,More frequent than more familiar diseases such as PKU, galactosemia and Tay-Sachs disease.,There are now specific diagnoses for numerous disorders but no specific codes.,Many of these disorders are now screened for by newborn testing.,3,FATTY ACID OXIDATION,Plays a major role in energy production during periods of fasting,Does not occur in the brain,Many different steps involved in metabolic pathway defects in any of these can result in a metabolic disorder,4,FATTY OXIDATION DISORDERS(Clinical/Lab Findings),Typically present at a young age but can occur at any age, including adulthood,Occurs at least as frequently as PKU,Following fasting or viral infection, may present with episodes of vomiting, hypotonia, lethargy, hypoglycemia and coma life-threatening,Some disorders result in chronic progressive muscle weakness, cardiomyopathy, or congenital anomalies.,5,MCADD,Medium Chain Co-A Acyl-Dehydrogenase Deficiency Prototype for FAO disorders,Incidence 1:15,000 Northern European,25-50% first episode fatality rate,Avoid Prolonged Fasting,+,Carnitine,Requires new methodology for identification for diagnosis,Tandem Mass Spectrometry,6,PEROXISOMES,Single membrane organelles within cell,Both anabolic and catabolic functions,Cholesterol and bile acid biosynthesis,Metabolism of very long-chain fatty acids,H,2,O,2,metabolism,Disorders result from defects in the formation or functioning of peroxisomes,7,Examples of Peroxisomal Disorders,Zellweger syndrome biogenesis defect,X-linked adrenoleukodystrophy single protein defect,“Lorenzos Oil”,Rhizomelic chondrodysplasia punctata skeletal disorder,8,Mitochondrial Disorders,Mitochondria are cellular organelles involved in energy production and utilization,Have their own DNA; disorders result from defects in mtDNA or nuclear DNA,Disorders are many and varied,Neurological involvement: myopathies and encephalopathies,9,New Code Recommendations,Under 277.8 Other specified disorders of metabolism,New code:,277.85 Disorders of fatty acid oxidation,Carnitine palmitoyltransferase deficiencies (CPT1,CPT2),Glutaric aciduria type II (type IIA, IIB, IIC),Long chain/very long chain acyl CoA dehydrogenase deficiency (LCAD, VLCAD),Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD),Medium chain acyl CoA dehydrogenase deficiency (MCAD),Short chain acyl CoA dehydrogenase deficiency (SCAD),Add,Excludes: primary carnitine deficiencies (277.81),10,New Code Recommendations,Under 277.8 Other specified disorders of metabolism,New Code:,277.86 Disorders of peroxisomal disorders,Adrenomyeloneuropathy,Infantile Refsum disease,Neonatal adrenoleukodystrophy,Rhizomelic chondrodysplasia punctata,X-linked adrenoleukodystrophy,Zellweger syndrome,11,New Code Recommendations,New Code:,277.87 Disorders of mitochondrial,metabolism,Kearns-Sayre syndrome,Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS),Myoclonus with epilepsy and with ragged red fibers syndrome (MERFF),Mitochondrial neurogastrointestinal encephalopathy (MNGIE)_,Neuropathy, ataxia and retinitis pigmentosa syndrome (MARP),Add,Excludes:,disorders of pyruvate metabolism (271.8),Lebers disease (377.16),Leighs encephalopathy (330.8),Reyes syndrome (331.81),12,Autosomal Deletion Syndromes,Autosomal: involves one of the numbered (ie, non-sex chromosomes),Deletion: an abnormality of DNA that involves missing material. These can range from very small (as little as 1 base pair) to very large (involving millions of base pairs of DNA),13,Autosomal Deletion Syndromes,Recommendations for ICD-9-CM,Remove antimongolism (this is archaic and pejorative term, not clinically relevant),Add subcodes within 758.3,758.31 Cri-du-Chat (currently listed under 758.3),758.32 Velo-Cardio-Facial Syndrome,758.33 Other microdeletions (with Smith-Magenis syndrome and Miller-Dieker syndrome listed),758.39 Other autosomal deletions,14,Cri-du-Chat syndrome,First recognized syndrome due to a deletion (1963),Involves a missing piece of the short arm of chromosome 5 (5p-),Only deletion syndrome currently listed in ICD-9-CM,15,Cri-du-Chat syndrome,Mental retardation,Microcephaly,Round face,Congenital Malformations,Laryngeal anomaly leading to cry sounding like cat (infants),Picture from Cri-du-Chat Syndrome Website,16,Cri-du-Chat syndrome,17,Velo-Cardio-Facial Syndrome,Abnormalities of palate including clefts (velo),Cardiac malformations (frequently septal defects),Unusual facial features,Long face,Flattened cheeks,Dark circles under eyes,Prominent nose,18,Velo-Cardio-Facial Syndrome,Other Features,Learning disabilities/Mental retardation,Long slender fingers,Neuropsychiatric abnormalities,Can be associated with DiGeorge sequence (T-cell immune deficiency, hypercalcemia),Caused by deletion 22q11.2,19,Velo-cardio-facial Syndrome,Rationale for Including in ICD 9-CM,Most common autosomal deletion syndrome (incidence in US 1:3,000.,Compare to Cri-du-chat 1:20-50,000),Nearly 100,000 affected in U.S.,Well recognized syndrome diagnosed by geneticists, cardiologists, otolaryngologists,Significant number diagnosed in adulthood,20,Deletion vs. Microdeletion,Deletion visible by standard cytogenetic techniques,By definition is large (must be a minimum of 1-2 million bases to be visible),Usually severe birth defects, mental retardation and frequently shortened life,Deletion requires special molecular techniques to detect,Increasingly recognized as cause of specific syndromes,As a whole are more common than visible deletions,21,Example:Prader-Willi Syndrome,Visible deletion,Chromosome 15,Microdeletion (absence of a FISH signal),22,Rationale for Separate Code,Microdeletions are more common than visible deletions,As more is learned and techniques are improving, more syndromes are found to be due to these microdeletions,Specific molecular techniques are necessary to diagnose (specific code supports medical necessity for doing additional testing),Other conditions due to microdeletions can be added to index (Wolf-Hirschhorn, Jacobsen, etc),23,Routine Neonatal Screening,Began in the 1960s with PKU screening,Is now expanding to include many metabolic conditions,Is designed to maximize detection, therefore results in false positives,24,Rationale for New Code for Neonatal Screening,Currently physicians are using disease codes for positive screens.,Therefore, surveillance data are skewed.,A new code would accurately describe the clinical situation between positive screen and final diagnosis.,This is analogous to 796.5, “Abnormal finding on antenatal screening.”,25,New Code Recommendation for Neonatal Screening,Position new code under 796: Other nonspecific abnormal findings,796.6 “Nonspecific abnormal findings on neonatal screening” Excludes: nonspecific serologic evidence of HIV,26,
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