In view of the major improvements in treatment, it has become increasingly important that in order for first-line physicians not to miss a treatable disorder they should be able initiate a simple method of clinical screening, particularly in the emergency room. We present a simplified classification of treatable inborn errors of metabolism in three groups. Group 1 includes inborn errors of intermediary metabolism that give rise to an acute or chronic intoxication. It encompasses aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerances, metal disorders and porphyrias. Clinical expression can be acute or systemic or can involve a specific organ, and can strike in the neonatal period or later and intermittently from infancy to late adulthood. Most of these disorders are treatable and require the emergency removal of the toxin by special diets, extracorporeal procedures, cleansing drugs or vitamins. Group 2 includes inborn errors of intermediary metabolism that affect the cytoplasmic and mitochondrial energetic processes. Cytoplasmic defects encompass those affecting glycolysis, glycogenosis, gluconeogenesis, hyperinsulinisms, and creatine and pentose phosphate pathways; the latter are untreatable. Mitochondrial defects include respiratory chain disorders, and Krebs cycle and pyruvate oxidation defects, mostly untreatable, and disorders of fatty acid oxidation and ketone bodies that are treatable. Group 3 involves cellular organelles and includes lysosomal, peroxisomal, glycosylation, and cholesterol synthesis defects. Among these, some lysosomal disorders can be efficiently treated by enzyme replacement or substrate reduction therapies. Physicians can be faced with the possibility of a treatable inborn error in an emergency, either in the neonatal period or late in infancy to adulthood, or as chronic and progressive symptoms--general (failure to thrive), neurological, or specific for various organs or systems. These symptoms are summarized in four tables. In addition, an extensive list of medications used in the treatment of inborn errors is presented.

Humans↗

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Subcapital talar osteotomy to correct transverse plane structural flatfoot deformities.

Subcapital talar neck adductory wedge osteotomies have significant benefits in the correction of angular deformities of the talar head in the pediatric flatfoot. Reconstruction of a severe flatfoot may include an Evans opening calcaneal osteotomy, a modified Young's tenosuspension with a posterior tibial and spring ligament advancement and a tendo Achillies lengthening. Talar neck osteotomies should also be considered in the presurgical evaluation of the pediatric and adolescent flatfoot with severe transverse plane deformity.

Achilles Tendon↗

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Amniotic band syndrome.

Amniotic band syndrome is an uncommon, congenital fetal abnormality with multiple disfiguring and disabling manifestations. A wide spectrum of clinical deformities are encountered and range from simple ring constrictions to major craniofacial and visceral defects. Lower extremity limb malformations are extremely common and consist of asymmetric digital ring constrictions, distal atrophy, congenital intrauterine amputations, acrosyndactyly, lymphedema and clubfoot. Although debated, early amnion rupture with subsequent entanglement of fetal parts (mostly limbs and appendages) by amniotic strands is the primary theory of pathogenesis. The sporadic nature of this congenital anomaly is discussed, as well as a case study involving the surgical correction of an associated rigid clubfoot deformity.

Adult↗

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Effects of ankle arthrodesis on the subtalar and midtarsal joints.

Proper positioning of an ankle arthrodesis is crucial, since it will allow compensatory motion to occur in the rearfoot complex. Arthrosis in the rearfoot can be expected several years after fusion; however, malalignment can potentiate rearfoot arthrosis and lead to a painful and nonfunctional gait.

Ankle↗

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Use of the cannulated bone screw in rearfoot surgery.

There are many types of rigid internal fixation devices available for podiatric surgery. The cannulated screw system is an easy and effective way to decrease surgical time. These screws are being used with great success for several rearfoot procedures, such as the triple arthrodesis, Dwyer calcaneal osteotomy, and posterior malleolar ankle fractures.

Ankle Injuries↗