Inborn Errors of Biotin Metabolism

Nyhan, William L.

doi:10.1001/archderm.1987.01660360146027

Cited by 44 publications

(11 citation statements)

References 32 publications

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“…Erythroderma with alopecia may also be observed in association with metabolic disorders, such as biotin deficiency and citrullinemia. [23][24][25] The histological findings agreed with the final diagnosis in only 45% of cases, a percentage that is similar to those reported in other studies of adult erythroderma. 26,27 Histological examination can provide the diagnosis of graft-vs-host disease or Omenn syndrome in cases of significant lymphocytic infiltration and keratinocytic necrosis with satellite lymphocytes.…”

Section: Commentsupporting

confidence: 83%

Neonatal and Infantile Erythrodermas

Pruszkowski¹,

Bodemer²,

Fraïtag³

et al. 2000

Arch Dermatol

112

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Section: Commentsupporting

confidence: 83%

Neonatal and Infantile Erythrodermas

Pruszkowski¹,

Bodemer²,

Fraïtag³

et al. 2000

Arch Dermatol

112

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“…Therefore, most human biotin deficiency results from people consuming diets high in raw egg containing foods. 3 There was no history to support that this child had consumed a diet rich in raw eggs.…”

Section: Discussionmentioning

confidence: 99%

Emergency Department Presentation of Biotinidase Deficiency: Fulminant Sepsis in a 4-Year-Old Hispanic Male

Reed

Rupp

2004

Pediatric Emergency Care

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Key Words: apocarboxylase, biotin, biotinidase, biotinidase deficiency, candida albicans, carboxylase, hyperammonemia immune deficiency/dysfunction, inborn/inherited errors of metabolism, lactic acidosis, metabolic acidosis, sepsis, staphylococcal toxic shock syndrome B iotin acts as an essential cofactor in multiple biochemical pathways. Dietary biotin deficiency is rare as biotin is plentiful in a balanced diet. The enzyme biotinidase recycles dietary biotin. Deficiency in biotinidase presents in a manner similar to that of biotin deficiency itself. Biotin deficiency, and therefore, biotinidase deficiency, present with characteristic metabolic, neurologic, dermatologic, and immunologic abnormalities. This case report discusses the pathophysiology and complications of biotinidase deficiency and illustrates a common presentation of an uncommon, potentially fatal error of metabolism. CASEA 4-year-old Hispanic male presented to the emergency department with a 1-day history of increased work of breathing, severe vomiting, and abdominal pain. Two days prior to arrival, he had begun to complain of right knee pain and difficulty bearing weight. His parents denied knowledge of a precipitating traumatic event. On the day prior to arrival, his knee pain had resolved, but he began to have multiple episodes of emesis and was intolerant of oral intake. He was noted to have felt warm at home, but the family did not take the child's temperature.His past medical history was significant for psoriasis diagnosed 1 year previously in Mexico. His parents stated that he was admitted to the hospital for 1 week with generalized skin peeling and alopecia. The parents believed he may have undergone a skin biopsy in Mexico, but they were not aware of the results. He had no known drug allergies, took no medications, and had an upto-date immunization history. Developmentally, the child appeared to be appropriate for his age. There was no significant family history, and his social history was significant for a recent move to the United States from Mexico. He lived with his parents and siblings, all of whom had no significant past medical history. Of note, his parents were first cousins.Vital signs were the following: heart rate, 140; respiratory rate, 28; blood pressure, 78/38; temperature, 39.08C. His physical examination revealed a lethargic, acutely ill-appearing 4-year-old male with anicteric sclera, dry mucous membranes, and sunken eyes. The neck was supple and without lymphadenopathy. Cardiac examination revealed a grade II/VI systolic murmur. Lung examination indicated tachypnea but no wheezing, rales, ronchi, or retractions. The abdomen was distended and moderately tender to palpation but there was neither guarding nor rebound. His neurologic examination was nonfocal, but the child was globally lethargic. There was desquamation observed in the skin folds of the arms. Laboratory evaluation revealed a sodium level of 137 mEq/L, potassium level of 2.2 mEq/L, a chloride level of 98 mEq/L, a bicarbonate level of 12 mEq/L, a blood urea nit...

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“…Neonates presenting with erythroderma are mostly misdiagnosed and treated for eczemas with topical steroids leading to Cushing's syndrome. [31] Essential points in clinical history which can help in pointing to the underlying etiology are: [33,34] • Hair dysplasia-Netherton syndrome • Mucosal examination • Palmoplanter thickening-PRP • Swirled pattern of erythroderma-CHS • Lymphadenopathy -Omenn's syndrome, GVHR, atopic dermatitis • Shock-TSS. [32] …”

Section: Managementmentioning

confidence: 99%

Neonatal erythroderma (red baby)

Sarkar¹,

Garg²,

Garg³

2013

Indian J Paediatr Dermatol

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Erythroderma in neonates is a rare but a well established life threatening entity. Though it has been studied extensively in adults, the literature is lacking in the paediatric age group. The underlying etiological causes of neonatal erythroderma are pre-existing cutaneous diseases, infections, immunodeficiency disorders, metabolic and nutritional disorders and drugs. It is a challenge to diagnose the underlying etiology of neonatal erythroderma due to the rare specific presentation of the characteristic clinical signs and histopathological changes. In this review we discuss the incidence, etiology, specific points in history and examination which can be useful at arriving at the diagnosis and outline of management.

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Inborn Errors of Biotin Metabolism

Cited by 44 publications

References 32 publications

Neonatal and Infantile Erythrodermas

Neonatal and Infantile Erythrodermas

Emergency Department Presentation of Biotinidase Deficiency: Fulminant Sepsis in a 4-Year-Old Hispanic Male

Neonatal erythroderma (red baby)

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