Can psychiatric childhood disorders be due to inborn errors of metabolism?

Abstract

Many patients who visit a centre for hereditary metabolic diseases remarkably also suffer from a child psychiatric disorder. Those child psychiatric disorders may be the first sign or manifestation of an underlying metabolic disorder. Lack of knowledge of metabolic disorders in child psychiatry may lead to diagnoses being missed. Patients therefore are also at risk for not accessing efficacious treatment and proper counselling. To search the literature for the co-occurrence of child psychiatric disorders, such as ADHD, autism, psychosis, learning disorders and eating disorders and metabolic disorders. A search of the literature was conducted by performing a broad search on PubMed, using the terms “ADHD and metabolic disorders”, “autism and metabolic disorders”, “psychosis and metabolic disorders”, “learning disorders and metabolic disorders”, and “eating disorders and metabolic disorders”. Based on inclusion criteria (concerning a clear psychiatric disorder and concerning a metabolic disorder) 4441 titles and 249 abstracts were screened and resulted in 71 relevant articles. This thorough literature search provides child and adolescent psychiatrists with an overview of metabolic disorders associated with child psychiatric symptoms, their main characteristics and recommendations for further investigations.

Tyrosinemia Type Iii: A Case Report of Siblings and Literature Review

“…Metabolic diseases most associated with ADHD are succinic semialdehyde dehydrogenase deficiency, phenylketonuria, X-linked ichthyosis, and mucopolysaccharidosis type III (Sanfilippo syndrome). 11 Establishing a genotype-phenotype correlation in tyrosinemia is difficult since the literature has very few cases described on the subject, and only some of them identify distinct mutations. Tables 1 and 2 summarize the main clinical and analytical characteristics of patients known to date.…”

Adrenoleukodystrophy presenting as glue sniffing

“…Simons et al reviewed 71 papers for psychiatric childhood disorders secondary to inborn errors of metabolism. They reported ALD to be associated only with learning disorders;5 while Sedel et al reported that psychiatric symptoms like mania, depression and acute psychosis may precede motor symptoms in late onset ALD 6. Ray et al presented a 15-year old with ALD presenting as treatment resistant mania 7.…”

The role of integrated behavioral health in caring for patients with metabolic disorders

“…Mental health disorders can occur in patients with IEM disorders due to accumulation of neurotoxic compounds in the central nervous system, through enzymatic defects, or other protein dysfunction; causing disruption of neurodevelopmental processes or impact on neurotransmitter systems (23). These disorders vary in presentation from psychiatric emergencies, including A caveat in the management of psychiatric disorders cooccurring in patients with IEM is that some of the symptoms may become "treatment-resistant" as the underpinning neurobiology differs from the primary psychiatric illness.…”