A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria

Research output: Contribution to journalArticle

Abstract

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults. Hereby, we describe a three- year old male child who presented with generalized edema and global developmental delay. Investigations revealed PKU along with FSGS. We assume that congenital nephrosis ameliorated the picture of PKU, and had a salutary effect on the growth and development. Such coexistence between PKU and FSGS hasn’t been described before.

Original languageEnglish
Pages (from-to)1-3
Number of pages3
JournalMetabolic Brain Disease
DOIs
Publication statusAccepted/In press - Apr 7 2017

Fingerprint

Focal Segmental Glomerulosclerosis
Phenylketonurias
Proteinuria
Phenylalanine Hydroxylase
Metabolism
Inborn Errors Amino Acid Metabolism
Amino Acids
Defects
Enzymes
Microcephaly
Nephrotic Syndrome
Proteins
Growth and Development
Edema
Seizures
Homeostasis
Growth

Keywords

  • Brain development
  • FSGS
  • Metabolic
  • NPHS2
  • Oman
  • PKU

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

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title = "A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria",
abstract = "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults. Hereby, we describe a three- year old male child who presented with generalized edema and global developmental delay. Investigations revealed PKU along with FSGS. We assume that congenital nephrosis ameliorated the picture of PKU, and had a salutary effect on the growth and development. Such coexistence between PKU and FSGS hasn’t been described before.",
keywords = "Brain development, FSGS, Metabolic, NPHS2, Oman, PKU",
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AU - Rabah, Fatma

AU - Al-Thihli, Khalid

AU - El-Naggari, Mohamed

AU - Elnour, Ibtisam B.

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N2 - Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults. Hereby, we describe a three- year old male child who presented with generalized edema and global developmental delay. Investigations revealed PKU along with FSGS. We assume that congenital nephrosis ameliorated the picture of PKU, and had a salutary effect on the growth and development. Such coexistence between PKU and FSGS hasn’t been described before.

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