Delayed Elevation of Serum Phenylalanine Level in a Breast-Fed Child

PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 334-336
Author(s):  
John Binder ◽  
Charles F. Johnson ◽  
Beverly Saboe ◽  
Susan Krug-Wispe
Keyword(s):  
Autosomal Recessive ◽  
Collaborative Study ◽  
Autosomal Recessive Disorder ◽  
Dietary Therapy ◽  
Normal Range ◽  
Phenylalanine Level ◽  
State Public Policy ◽  
Serum Phenylalanine ◽  
Harmful Effects ◽  
Breast Fed

Phenylketonuria (PKU) is an autosomal recessive disorder that causes mental retardation if not treated. Treatment consists of a low phenylalanine diet. If the diet is instituted prior to 3 to 4 weeks of age, the child can be expected to develop within the normal range.1 Early detection of PKU is therefore necessary to institute dietary therapy before harmful effects begin. In Iowa, state public policy specifies that a blood test for phenylalanine must be done on an infant prior to discharge from the hospital and again at 4 weeks of age.2 To diagnose PKU, the National Collaborative Study of Children Treated for Phenylketonuria requires that two serum phenylalanine levels of greater than 20 mg/dl be obtained.

Pregnancy Experiences in the Woman With Mild Hyperphenylalaninemia

PEDIATRICS ◽  
2003 ◽  
Vol 112 (Supplement_4) ◽  
pp. 1548-1552
Author(s):  
Harvey L. Levy ◽  
Susan E. Waisbren ◽  
Flemming Güttler ◽  
William B. Hanley ◽  
Reuben Matalon ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Head Circumference ◽  
Congenital Heart ◽  
Collaborative Study ◽  
Dietary Therapy ◽  
Maternal Phenylketonuria ◽  
Phenylalanine Level ◽  
Live Births ◽  
Normal Limits ◽  
Z Scores

Objective. A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report. Methods. Enrolled pregnancies in which the untreated prepregnancy assigned phenylalanine level (APL) was no more than 600 μmol/L were included in the Maternal PKU Collaborative Study and were followed according to protocol. Results. Forty-eight enrolled women with non-PKU MHP had mean APL 408 ± 114 μmol/L. They had a total of 58 pregnancies that resulted in live births. Fifty were untreated. Maternal phenylalanine (Phe) levels in the untreated pregnancies decreased during pregnancy for average Phe exposure of 270 ± 84 μmol/L, virtually identical to the level of 269 ± 136 μmol/L in the 8 treated pregnancies. Birth measurements in the 50 offspring from untreated pregnancies were within normal limits with z scores of −0.25 for weight, 0.28 for length, and −0.63 for head circumference, although birth head circumference was negatively correlated with maternal APL (r = −0.30). Only 1 offspring had congenital heart disease. Offspring IQ was 102 ± 15 compared with 96 ± 14 in the mothers with untreated pregnancies and with 109 ± 21 in control offspring. Conclusion. Maternal non-PKU MHP no more than 600 μmol/L does not require dietary therapy. The naturally lower Phe level during pregnancy seems to protect against teratogenesis.

A Joint Method for the Screening of Pharmacological Chaperones for Phenylalanine Hydroxylase

2021 ◽  
Author(s):  
Zhilei Zhang ◽  
DingYuan Ma ◽  
Xin Wang ◽  
YanYun Wang ◽  
YaHong Li ◽  
...  
Keyword(s):  
Nervous System ◽  
Autosomal Recessive ◽  
Phenylalanine Hydroxylase ◽  
Treatment Options ◽  
Autosomal Recessive Disorder ◽  
Severe Injury ◽  
Dietary Therapy ◽  
Pharmacological Chaperones ◽  
Joint Method

Phenylalanine hydroxylase (PAH) deficiency (PAHD) is an autosomal recessive disorder that causes severe injury to the nervous system which mainly depends on dietary therapy. The limited treatment options for PAHD...

A new syndrome: hearing loss and familial salivary gland insensitivity to aldosterone in two brothers

1990 ◽  
Vol 104 (12) ◽  
pp. 956-958 ◽  
Author(s):  
O. P. Tungland ◽  
M. O. Savage ◽  
S. C. Bellman
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Plasma Renin ◽  
Sodium Concentration ◽  
Sodium Balance ◽  
Normal Range ◽  
Middle Ear Fluid ◽  
Sodium And Potassium ◽  
Sweat Sodium

AbstractTwo male siblings presented in infancy with hyponatremia. The levels of plasma renin activity and aldosterone were elevated. Sodium supplement was necessary to maintain normal sodium balance. The salivary sodium concentrations were markedly elevated, with sweat sodium levels being in the upper normal range. Urinary sodium concentration and renal epithelial exchange between sodium and potassium were normal. This was felt to be due to an autosomal recessive disorder.Both siblings were later diagnosed as having a bilateral moderate to severe sensorineural hearing loss with intermittent conductive overlay due to middle ear fluid. The sensorineural loss was also felt to be autosomal recessive in origin, but the possibility of a disturbance of sodium balance in the inner ear has been questioned.

Intellectual Assessment of 111 Four-Year-Old Children With Phenylketonuria

PEDIATRICS ◽  
1977 ◽  
Vol 60 (6) ◽  
pp. 822-827
Author(s):  
James C. Dobson ◽  
Malcolm L. Williamson ◽  
Colleen Azen ◽  
Richard Koch
Keyword(s):  
Psychosocial Factors ◽  
Collaborative Study ◽  
Dietary Treatment ◽  
Dietary Therapy ◽  
Intelligence Scale ◽  
Intellectual Assessment ◽  
Treatment Groups ◽  
Serum Phenylalanine ◽  
Low Serum

Of the 216 children with phenylketonuria (PKU) who were initially enrolled in the Collaborative Study of Children Treated for Phenylketonuria, 203 were placed on dietary therapy between 3 and 92 days of age. Of these, 111 are now at least 4 years of age and constituted the sample for the present analysis. Their mean IQ on the Stanford Binet Intelligence Scale was 93 (1972 norms). The children assigned to two treatment groups based on "moderate" and "low" serum phenylalanine levels were comparable on their IQs at age 4, although many of the children could not be maintained in the specified categories. Females scored a significantly higher mean IQ than males (97 vs. 90). Those children for whom dietary treatment was initiated during the first month of life scored a mean IQ of 95, compared with 85 for those initially treated from 31 to 65 days. However, the interpretation of dietary inception data may have been contaminated by familial and psychosocial factors. The PKU Collaborative Study is still in progress in 15 clinics located in 11 states.

CLINICAL OBSERVATIONS IN PHENYLKETONURIA

PEDIATRICS ◽  
1965 ◽  
Vol 35 (6) ◽  
pp. 932-943
Author(s):  
Ellen Song Kang ◽  
Joseph L. Kennedy ◽  
Lorraine Gates ◽  
Ida Burwash ◽  
Ann McKinnon
Keyword(s):  
Dietary Treatment ◽  
Dietary Therapy ◽  
Perinatal Factors ◽  
Careful Evaluation ◽  
Phenylalanine Level ◽  
Clinical Observations ◽  
Individual Variations ◽  
Close Observation ◽  
Serum Phenylalanine

Clinical observations over a 36-month period on a group of patients with phenylketonuria are summarized. Preliminary comparison of 9 phenylketonuric patients started on dietary treatment at a mean age of 3.6 weeks and treated for a mean duration of 13.5 months revealed significantly lower developmental achievement than in their 34 unaffected siblings. Attempts should be made to shorten the period between birth and exact diagnosis as much as possible in order to determine whether that will further increase the benefits of dietary therapy. Maternal obstetrical histories were found to be significantly abnormal in approximately 46% of net pregnancies in heterozygotes. Consequently, careful evaluation of the role of perinatal factors is advised in the assessment of the results of dietary therapy in each patient. Fasting serum phenylalanine levels of 16 untreated infants under a month of age were not significantly different from those in 20 older patients with PKU. Individual variations in the vulnerability of the nervous system to elevation of the blood phenylalanine level may be another important factor in the variability in intellectual defect. One atypical patient is discussed. Measurements of phenylalanine levels in blood and close observation of the clinical course of the patient, particularly his weight gain, rather than the presence or absence of abnormal metabolites of phenylalanine in the urine, should be used as guides to early diagnosis and to the dietary management of patients with phenylketonuria.

3-M Syndrome Clinical Phenotype is Still the Only Mean for Prenatal and Postnatal Diagnosis

1996 ◽  
Vol 45 (1-2) ◽  
pp. 293-293
Author(s):  
E. Lapi ◽  
A. Cecconi ◽  
M.L. Giovannucci Uzielli ◽  
N. Salfi ◽  
L. Guarino
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joint Hypermobility ◽  
Clinical Aspects ◽  
Normal Range ◽  
Postnatal Diagnosis ◽  
Vertebral Bodies ◽  
Vertical Talus ◽  
The Church

In 1975, Miller, McKusick, Malvaux et al. reported a new form of low-birth weight dwarfism with normal intelligence, later called 3-M syndrome (after the initials of the first three authors). As of 1994 about 30 cases have been reported from different ethnic groups. The recurrence of the syndrome in sibs, with normal parents, provides evidence for an autosomal recessive disorder (MIM *273750). Diagnostic criteria are: prenatal onset dwarfism, dolicocephaly, joint hypermobility, slenderness of the shafts of the long bones and ribs and foreshortening of lumbar vertebral bodies, abnormal small pelvis, short femoral necks and vertical talus.We report the occorrence of 3-M syndrome in two new unrelated families; the long follow-up offers important subjects for discussion.In the first family the proposita at birth showed a Larsen-like phenotype with flat face, very short stature and generalized joint hypermobility. The clinical aspects greatly changed in the years and we were able to give the diagnosis of 3-M syndrome when she was 15 years old.In the second family the propositus was a boy, showing obvious features since his birth: mild joint hypermobility, omphalocele, bilateral inguinal hernia and macrocephaly. At the age of 7 years the phenotype is still highly significant.Two subsequent fetuses in the same sibship have been demonstrated affected by 3-M syndrome. The diagnosis was made after the 20th gestation week by means of ecography, and was confirmed after the termination, by both clinical and X-ray examination. Fetal parameters were not significant in the earlier stages of gestation. Of special interest are some-radiological aspects in both parents, whose stature is in the low normal range.A search in the church registry, going back to 1704, revealed no parental consanguinity, but the same family name is present in both paternal and maternal pedigrees.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

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