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JIMD Reports - Case and Research Reports, 2012/4

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Cover of 'JIMD Reports - Case and Research Reports, 2012/4'

Table of Contents

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    Book Overview
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    Chapter 128 Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
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    Chapter 132 Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?
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    Chapter 133 Hereditary Intrinsic Factor Deficiency in Chaldeans
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    Chapter 134 JIMD Reports - Case and Research Reports, 2012/4
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    Chapter 135 Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
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    Chapter 136 Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease
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    Chapter 138 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
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    Chapter 140 Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
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    Chapter 141 The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I
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    Chapter 142 Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
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    Chapter 143 Autism Spectrum Disorder in a Child with Propionic Acidemia
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    Chapter 144 Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease
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    Chapter 145 β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype
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    Chapter 146 In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography
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    Chapter 153 A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)
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    Chapter 154 Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
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    Chapter 156 High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase
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    Chapter 157 Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU
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    Chapter 158 Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
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    Chapter 166 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase ( OPLAH) Missense Changes
Attention for Chapter 143: Autism Spectrum Disorder in a Child with Propionic Acidemia
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Chapter title
Autism Spectrum Disorder in a Child with Propionic Acidemia
Chapter number 143
Book title
JIMD Reports - Case and Research Reports, 2012/4
Published in
JIMD reports, March 2012
DOI 10.1007/8904_2012_143
Pubmed ID
Book ISBNs
978-3-64-232441-3, 978-3-64-232442-0

M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet, A. Qari, S. Al-Muaigl, M. Ghaziuddin


Autism is a neurodevelopmental disorder characterized by a combination of reciprocal social deficits, communication impairment, and rigid ritualistic interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions in at least 10% of cases. Although uncommon, cases of autism have also been reported in association with metabolic disorders. In this brief report, we describe the occurrence of autism in a 7-year-old girl with propionic acidemia (PA), a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase and characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. It is particularly common in countries with high rates of consanguinity. Early diagnosis of autism in patients with metabolic disorders is important since autistic features are sometimes the most disruptive of all the child's problems. This facilitates providing the needed behavioral services not otherwise available for children with metabolic disorders.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 5 22%
Researcher 4 17%
Student > Doctoral Student 2 9%
Student > Ph. D. Student 2 9%
Professor 2 9%
Other 2 9%
Unknown 6 26%
Readers by discipline Count As %
Medicine and Dentistry 7 30%
Neuroscience 2 9%
Social Sciences 2 9%
Biochemistry, Genetics and Molecular Biology 1 4%
Psychology 1 4%
Other 3 13%
Unknown 7 30%