research Pancreatitis associated with valproic acid therapy for epilepsy
Valproic acid can cause serious side effects, including pancreatitis and even death.
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90-120 / 1000+ resultsresearch Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research AMINOGENIC ALOPECIA LOSS OF HAIR ASSOCIATED WITH ARGININOSUCCINIC ACIDURIA
Argininosuccinic aciduria can cause hair loss.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Eosinophilic Pleuropericardial Effusion due to Valproic Acid
Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy
Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Acetate meliorates depressive-like behaviour in a rat model of PCOS through suppression of HDAC2 expression and DNA methylation
Acetate helps reduce depression in rats with PCOS by lowering specific gene expression and DNA changes in the brain.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Granulomatous pigmented purpuric dermatosis containing Propionibacterium acnes
A medication may help with hair growth in psoriasis, and a skin condition might be linked to a specific bacteria.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine
Valproic acid does not change biotinidase enzyme activity in children's blood.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research [Adverse effects of valproic acid in epileptic infants and adolescents].
Valproic acid can cause mild side effects like anorexia and hair loss in some epileptic patients.
research Chronic Pancreatitis and Persistent Steatorrhea: What Is the Correct Dose of Enzymes?
Enzyme doses for chronic pancreatitis should match meal size, not patient size.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Effect of acidifier on performance and serum biochemical indices in fur ring minks
1.5% lactic acid improved mink growth and health best.
research Valproic Acid is an Effective Anti-Emetic Treatment in Alexander Disease (P10-9.010)
Valproic acid is a more effective treatment for vomiting in Alexander disease than other medications, with few side effects.
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.